Variant: rs1553521389 

    present in Gene: CUL3
    present in Chromosome: 2
    Position on Chromosome: 224503679
    Alleles of this Variant: AG/-

rs1553521389 in CUL3 gene and Dysmorphic features PMID 22266938 2012 Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

PMID 20880695 2010 Structural assembly of cullin-RING ubiquitin ligase complexes.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 21554755 2011 The cullin protein family.

PMID 18927510 2008 The cullin7 E3 ubiquitin ligase: a novel player in growth control.

PMID 16595883 2006 The ubiquitin-proteasome system.

PMID 18687424 2009 Gene expression alterations in cryptorchid males using spermatozoal microarray analysis.

PMID 20065088 2010 Drosophila Kelch functions with Cullin-3 to organize the ring canal actin cytoskeleton.

PMID 15136734 2004 Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice.

PMID 15843622 2005 Requirement of Cul3 for axonal arborization and dendritic elaboration in Drosophila mushroom body neurons.

PMID 17559828 2007 Suppression of Hedgehog signaling by Cul3 ligases in proliferation control of retinal precursors.

PMID 10500095 1999 Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells.

PMID 15511641 2004 Cullin-3 regulates pattern formation, external sensory organ development and cell survival during Drosophila development.

PMID 16162871 2006 Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis.

PMID 22914163 2012 Rate of de novo mutations and the importance of father's age to disease risk.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 15071497 2004 Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family.

PMID 25969726 2015 Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PMID 24959344 2014 Kelch proteins: emerging roles in skeletal muscle development and diseases.

PMID 3002982 1986 Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 24266877 2014 Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 23676014 2013 Update on the Kelch-like (KLHL) gene family.

rs1553521389 in CUL3 gene and Multiple congenital anomalies PMID 15843622 2005 Requirement of Cul3 for axonal arborization and dendritic elaboration in Drosophila mushroom body neurons.

PMID 24266877 2014 Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

PMID 18687424 2009 Gene expression alterations in cryptorchid males using spermatozoal microarray analysis.

PMID 16162871 2006 Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis.

PMID 20065088 2010 Drosophila Kelch functions with Cullin-3 to organize the ring canal actin cytoskeleton.

PMID 16595883 2006 The ubiquitin-proteasome system.

PMID 15136734 2004 Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice.

PMID 10500095 1999 Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells.

PMID 18927510 2008 The cullin7 E3 ubiquitin ligase: a novel player in growth control.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 17559828 2007 Suppression of Hedgehog signaling by Cul3 ligases in proliferation control of retinal precursors.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25969726 2015 Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 3002982 1986 Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate.

PMID 24959344 2014 Kelch proteins: emerging roles in skeletal muscle development and diseases.

PMID 15511641 2004 Cullin-3 regulates pattern formation, external sensory organ development and cell survival during Drosophila development.

PMID 15071497 2004 Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family.

PMID 22266938 2012 Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

PMID 21554755 2011 The cullin protein family.

PMID 20880695 2010 Structural assembly of cullin-RING ubiquitin ligase complexes.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 23676014 2013 Update on the Kelch-like (KLHL) gene family.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 22914163 2012 Rate of de novo mutations and the importance of father's age to disease risk.

rs1553521389 in CUL3 gene and Muscle hypotonia PMID 25969726 2015 Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PMID 3002982 1986 Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 15843622 2005 Requirement of Cul3 for axonal arborization and dendritic elaboration in Drosophila mushroom body neurons.

PMID 18687424 2009 Gene expression alterations in cryptorchid males using spermatozoal microarray analysis.

PMID 20065088 2010 Drosophila Kelch functions with Cullin-3 to organize the ring canal actin cytoskeleton.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 17559828 2007 Suppression of Hedgehog signaling by Cul3 ligases in proliferation control of retinal precursors.

PMID 22266938 2012 Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

PMID 24959344 2014 Kelch proteins: emerging roles in skeletal muscle development and diseases.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 20880695 2010 Structural assembly of cullin-RING ubiquitin ligase complexes.

PMID 16162871 2006 Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis.

PMID 16595883 2006 The ubiquitin-proteasome system.

PMID 21554755 2011 The cullin protein family.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 22914163 2012 Rate of de novo mutations and the importance of father's age to disease risk.

PMID 23676014 2013 Update on the Kelch-like (KLHL) gene family.

PMID 18927510 2008 The cullin7 E3 ubiquitin ligase: a novel player in growth control.

PMID 24266877 2014 Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

PMID 15071497 2004 Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family.

PMID 15136734 2004 Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice.

PMID 10500095 1999 Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells.

PMID 15511641 2004 Cullin-3 regulates pattern formation, external sensory organ development and cell survival during Drosophila development.