Variant: rs1554698878 

    present in Gene: HNRNPK
    present in Chromosome: 9
    Position on Chromosome: 83971976
    Alleles of this Variant: G/A

rs1554698878 in HNRNPK gene and Dysmorphic features PMID 11574481 2001 The major mRNA-associated protein YB-1 is a potent 5' cap-dependent mRNA stabilizer.

PMID 12183465 2002 An RNA helicase, DDX1, interacting with poly(A) RNA and heterogeneous nuclear ribonucleoprotein K.

PMID 9234727 1997 The product of the murine homolog of the Drosophila extra sex combs gene displays transcriptional repressor activity.

PMID 26954065 2016 A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

PMID 11891683 2002 Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.

PMID 26173930 2015 GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

PMID 10817758 2000 Nucleolin and YB-1 are required for JNK-mediated interleukin-2 mRNA stabilization during T-cell activation.

PMID 24501764 2014 Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.

PMID 8833161 1996 Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A.

PMID 10995551 2000 Localization and phosphorylation of Abl-interactor proteins, Abi-1 and Abi-2, in the developing nervous system.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 12853611 2003 Transient recruitment of the hnRNP K protein to inducibly transcribed gene loci.

PMID 15170860 2004 hnRNP K: one protein multiple processes.

PMID 9218800 1997 The K nuclear shuttling domain: a novel signal for nuclear import and nuclear export in the hnRNP K protein.

PMID 10523673 1999 The levels of the bancal product, a Drosophila homologue of vertebrate hnRNP K protein, affect cell proliferation and apoptosis in imaginal disc cells.

PMID 11867641 2002 Heterogeneous nuclear ribonucleoprotein (hnRNP) K is a component of an intronic splicing enhancer complex that activates the splicing of the alternative exon 6A from chicken beta-tropomyosin pre-mRNA.

PMID 15364910 2004 Phylogenetically conserved binding of specific K homology domain proteins to the 3'-untranslated region of the vertebrate middle neurofilament mRNA.

PMID 20116073 2010 Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.

PMID 24990929 2014 Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 24288371 2014 Pfam: the protein families database.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 16488668 2006 Cell-type-specific and developmental regulation of heterogeneous nuclear ribonucleoprotein K mRNA in the rat nervous system.

PMID 28374925 2018 Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

PMID 23455423 2013 Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

PMID 22102872 2011 Heterogeneous nuclear ribonucleoprotein k interacts with Abi-1 at postsynaptic sites and modulates dendritic spine morphology.

PMID 19170760 2009 hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 18054780 2008 Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex.

rs1554698878 in HNRNPK gene and Multiple congenital anomalies PMID 26954065 2016 A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 8833161 1996 Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A.

PMID 28374925 2018 Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 16488668 2006 Cell-type-specific and developmental regulation of heterogeneous nuclear ribonucleoprotein K mRNA in the rat nervous system.

PMID 19170760 2009 hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 22102872 2011 Heterogeneous nuclear ribonucleoprotein k interacts with Abi-1 at postsynaptic sites and modulates dendritic spine morphology.

PMID 20116073 2010 Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.

PMID 24501764 2014 Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.

PMID 24288371 2014 Pfam: the protein families database.

PMID 23455423 2013 Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

PMID 9218800 1997 The K nuclear shuttling domain: a novel signal for nuclear import and nuclear export in the hnRNP K protein.

PMID 18054780 2008 Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex.

PMID 11574481 2001 The major mRNA-associated protein YB-1 is a potent 5' cap-dependent mRNA stabilizer.

PMID 10817758 2000 Nucleolin and YB-1 are required for JNK-mediated interleukin-2 mRNA stabilization during T-cell activation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 11867641 2002 Heterogeneous nuclear ribonucleoprotein (hnRNP) K is a component of an intronic splicing enhancer complex that activates the splicing of the alternative exon 6A from chicken beta-tropomyosin pre-mRNA.

PMID 12183465 2002 An RNA helicase, DDX1, interacting with poly(A) RNA and heterogeneous nuclear ribonucleoprotein K.

PMID 11891683 2002 Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.

PMID 26173930 2015 GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

PMID 10995551 2000 Localization and phosphorylation of Abl-interactor proteins, Abi-1 and Abi-2, in the developing nervous system.

PMID 12853611 2003 Transient recruitment of the hnRNP K protein to inducibly transcribed gene loci.

PMID 15364910 2004 Phylogenetically conserved binding of specific K homology domain proteins to the 3'-untranslated region of the vertebrate middle neurofilament mRNA.

PMID 10523673 1999 The levels of the bancal product, a Drosophila homologue of vertebrate hnRNP K protein, affect cell proliferation and apoptosis in imaginal disc cells.

PMID 15170860 2004 hnRNP K: one protein multiple processes.

PMID 9234727 1997 The product of the murine homolog of the Drosophila extra sex combs gene displays transcriptional repressor activity.

PMID 24990929 2014 Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.

rs1554698878 in HNRNPK gene and Muscle hypotonia PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 28374925 2018 Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

PMID 24288371 2014 Pfam: the protein families database.

PMID 24990929 2014 Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.

PMID 8833161 1996 Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A.

PMID 24501764 2014 Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.

PMID 26173930 2015 GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

PMID 10817758 2000 Nucleolin and YB-1 are required for JNK-mediated interleukin-2 mRNA stabilization during T-cell activation.

PMID 26954065 2016 A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

PMID 9234727 1997 The product of the murine homolog of the Drosophila extra sex combs gene displays transcriptional repressor activity.

PMID 9218800 1997 The K nuclear shuttling domain: a novel signal for nuclear import and nuclear export in the hnRNP K protein.

PMID 23455423 2013 Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

PMID 22102872 2011 Heterogeneous nuclear ribonucleoprotein k interacts with Abi-1 at postsynaptic sites and modulates dendritic spine morphology.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 15364910 2004 Phylogenetically conserved binding of specific K homology domain proteins to the 3'-untranslated region of the vertebrate middle neurofilament mRNA.

PMID 10523673 1999 The levels of the bancal product, a Drosophila homologue of vertebrate hnRNP K protein, affect cell proliferation and apoptosis in imaginal disc cells.

PMID 12853611 2003 Transient recruitment of the hnRNP K protein to inducibly transcribed gene loci.

PMID 20116073 2010 Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 18054780 2008 Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex.

PMID 16488668 2006 Cell-type-specific and developmental regulation of heterogeneous nuclear ribonucleoprotein K mRNA in the rat nervous system.

PMID 11891683 2002 Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 10995551 2000 Localization and phosphorylation of Abl-interactor proteins, Abi-1 and Abi-2, in the developing nervous system.

PMID 11574481 2001 The major mRNA-associated protein YB-1 is a potent 5' cap-dependent mRNA stabilizer.

PMID 19170760 2009 hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.

PMID 15170860 2004 hnRNP K: one protein multiple processes.

PMID 12183465 2002 An RNA helicase, DDX1, interacting with poly(A) RNA and heterogeneous nuclear ribonucleoprotein K.

PMID 11867641 2002 Heterogeneous nuclear ribonucleoprotein (hnRNP) K is a component of an intronic splicing enhancer complex that activates the splicing of the alternative exon 6A from chicken beta-tropomyosin pre-mRNA.