present in Gene: HCFC1R1;THOC6
present in Chromosome: 16
Position on Chromosome: 3026101
Alleles of this Variant: C/T
rs763344375 in
HCFC1R1;THOC6 gene and
Dysmorphic features
PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.
PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.
PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.
PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).
PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.
PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.
PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).
PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.
PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.
PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.
PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.