HNF4A

hepatocyte nuclear factor 4 alpha

Summary

The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]

Known Variants495 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14913584320:42,983,861A/T—uncertain significance
rs37714478020:42,983,880T/C—conflicting classifications of pathogenicity
rs119328268620:42,984,019C/G—uncertain significance
rs53733604720:42,984,044G/A—conflicting classifications of pathogenicity
rs104893681720:42,984,067T/A—uncertain significance
rs11244444720:42,984,167G/A—likely benign
rs14831860720:42,984,169G/T—benign
rs214612695120:42,984,248G/A—uncertain significance
rs251542167120:42,984,262T/C—uncertain significance
rs214612696620:42,984,264G/A—pathogenic
rs214612698820:42,984,274A/G—uncertain significance
rs214612704020:42,984,313A/G—uncertain significance
rs54148369820:42,984,316T/C—likely benign
rs87909289020:42,984,362C/T—uncertain significance
rs18852020020:42,984,363G/Cregulatory region variant—
rs37314362120:42,984,366C/T—conflicting classifications of pathogenicity
rs76487920820:42,984,399C/A—uncertain significance
rs54625238220:42,984,401C/T—uncertain significance
rs77817395720:42,984,427G/A—uncertain significance
rs251542257520:42,984,445A/G—pathogenic
rs122965080920:42,984,446T/C—likely pathogenic
rs214612759420:42,984,447G/A—likely pathogenic
rs77946498320:42,984,451A/C—uncertain significance
rs251542267520:42,984,456G/C—likely benign
rs214612786220:42,984,492C/A—pathogenic
rs251542292720:42,984,494G/T—likely pathogenic
rs75932452220:42,984,506G/A—conflicting classifications of pathogenicity
rs131444053720:42,984,508G/A—likely benign
rs214490820:42,985,717G/Aupstream gene variant—
rs481282920:42,989,267G/Aintron variant—
rs603155120:42,989,714T/Cregulatory region variant—
rs603155220:42,989,794C/Aregulatory region variant—
rs11381077920:42,993,328T/Cintron variant—
rs1303986320:42,996,184G/Cintron variant—
rs11284520820:42,999,433G/Aregulatory region variant—
rs603156320:43,002,910G/C——
rs3611252020:43,003,122G/T——
rs19130412020:43,014,061G/Adownstream gene variant—
rs613060820:43,024,008T/Cregulatory region variant—
rs242563720:43,024,049G/Tregulatory region variant—
rs321217220:43,028,390A/Gupstream gene variant—
rs11220218420:43,029,664T/C—benign
rs94647701720:43,029,940A/G—likely benign
rs206340395020:43,029,944C/G—likely benign
rs56615573820:43,029,945G/A—conflicting classifications of pathogenicity
rs206340407820:43,029,947A/G—likely benign
rs119614220120:43,029,951C/G—likely benign
rs7535650420:43,029,952G/A—benign
rs75592464720:43,029,993G/A—uncertain significance
rs56873059920:43,029,998G/A—likely benign
rs75532997420:43,030,016C/T—uncertain significance
rs77409308720:43,030,033C/T—likely benign
rs206340723720:43,030,068T/C—uncertain significance
rs117057400920:43,030,109G/A—uncertain significance
rs36947849520:43,030,135G/A—likely benign
rs121633477420:43,030,136G/A—likely benign
rs125473217120:43,030,138G/A—uncertain significance
rs11372556220:43,030,160G/A—likely benign
rs18994346920:43,030,202C/T—likely benign
rs1042746920:43,030,311A/C—benign
rs207119720:43,030,435G/Aregulatory region variantbenign
rs75773193120:43,031,236C/T—likely pathogenic
rs7890491720:43,031,292A/G—likely benign
rs286809520:43,034,468G/A—benign
rs321217920:43,034,472C/T—benign
rs14589504820:43,034,482C/T—likely benign
rs321218020:43,034,513C/G—benign
rs55031123220:43,034,656T/A—likely benign
rs73682420:43,034,660T/Cupstream gene variantbenign
rs74597520:43,034,693C/Tsplice region variantlikely benign
rs76891143320:43,034,694G/A—benign
rs251564392220:43,034,697G/A—pathogenic
rs19979609420:43,034,701C/T—uncertain significance
rs251564399720:43,034,704C/G—uncertain significance
rs251564404120:43,034,710C/A—pathogenic
rs77366161420:43,034,716G/A—uncertain significance
rs75328522620:43,034,724C/A—uncertain significance
rs57005878820:43,034,729C/T—likely benign
rs14014385720:43,034,731C/T—uncertain significance
rs4128202620:43,034,732G/A—conflicting classifications of pathogenicity
rs76352990520:43,034,734C/A—conflicting classifications of pathogenicity
rs206349623520:43,034,749T/A—uncertain significance
rs37690622120:43,034,754G/A—uncertain significance
rs206349660820:43,034,759G/T—likely benign
rs251564442520:43,034,762T/C—likely benign
rs214636792520:43,034,767T/A—uncertain significance
rs14755257520:43,034,771C/T—likely benign
rs76900744320:43,034,772G/A—likely pathogenic
rs251564451020:43,034,773G/T—likely pathogenic
rs78136477320:43,034,774G/C—likely benign
rs160070759820:43,034,776A/T—uncertain significance
rs56130282420:43,034,779G/A—conflicting classifications of pathogenicity
rs73682320:43,034,783T/C—benign
rs14584588220:43,034,786G/A—likely benign
rs214636814020:43,034,803C/A—uncertain significance
rs20185238720:43,034,804C/T—likely benign
rs75330206520:43,034,816C/T—likely benign
rs214636827120:43,034,827G/T—likely pathogenic
rs214636830020:43,034,834C/G—uncertain significance
rs58777773220:43,034,835C/Tmissense variantpathogenic

Showing 100 of 495 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.