FOXA2

forkhead box A2

Summary

This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

Known Variants96 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20096746220:22,562,482G/A—likely benign
rs251481069920:22,562,493A/G—uncertain significance
rs74932224120:22,562,508G/T—uncertain significance
rs53457782920:22,562,510C/T—uncertain significance
rs75384928320:22,562,531T/A—uncertain significance
rs15078604520:22,562,543G/C—conflicting classifications of pathogenicity
rs57133029820:22,562,570G/A—uncertain significance
rs20107729420:22,562,578C/G—likely benign
rs76232349320:22,562,587G/T—likely benign
rs14945580520:22,562,607G/T—benign
rs18694594820:22,562,633T/G—conflicting classifications of pathogenicity
rs20127907320:22,562,651G/A—conflicting classifications of pathogenicity
rs121227520:22,562,674T/C—benign
rs14037720320:22,562,761T/G—uncertain significance
rs76721257620:22,562,762T/A—uncertain significance
rs76568420820:22,562,772G/T—uncertain significance
rs54225330520:22,562,780T/G—uncertain significance
rs56535044320:22,562,807G/T—uncertain significance
rs56223092620:22,562,827G/C—likely benign
rs77540245320:22,562,844C/G—uncertain significance
rs76870402620:22,562,855G/A—benign
rs98488741820:22,562,857C/G—likely benign
rs55850896820:22,562,872C/T—likely benign
rs120497743520:22,562,876G/C—benign
rs19979611920:22,562,879G/A—conflicting classifications of pathogenicity
rs156871608920:22,562,917C/A—uncertain significance
rs124761259620:22,562,959G/C—likely benign
rs116840970220:22,562,970G/T—uncertain significance
rs20045900320:22,562,990G/A—likely benign
rs77274998720:22,562,999C/G—benign
rs76031841620:22,563,000C/G—uncertain significance
rs120391020:22,563,025T/C—benign
rs128732986120:22,563,041T/C—uncertain significance
rs75638958120:22,563,051C/T—uncertain significance
rs37130907620:22,563,052G/C—likely benign
rs74804764420:22,563,064G/A—benign
rs77638122720:22,563,077G/T—uncertain significance
rs122264584520:22,563,090C/G—benign
rs76240271020:22,563,106C/T—likely benign
rs212299281420:22,563,143C/T—uncertain significance
rs126161866520:22,563,187G/C—uncertain significance
rs251481309320:22,563,260T/G—uncertain significance
rs37277355720:22,563,272C/T—uncertain significance
rs251481312920:22,563,282G/C—uncertain significance
rs251481330320:22,563,374G/C—likely pathogenic
rs78074603620:22,563,382C/T—likely benign
rs14427922220:22,563,391G/A—likely benign
rs74848220220:22,563,393G/A—uncertain significance
rs212299360820:22,563,404C/T—uncertain significance
rs212299365620:22,563,412G/C—likely benign
rs14730360820:22,563,415C/T—benign
rs251481344220:22,563,423C/A—uncertain significance
rs20170043920:22,563,442C/G—benign
rs37722426920:22,563,452T/C—likely benign
rs7247055620:22,563,455A/G—benign
rs15132369020:22,563,481G/A—likely benign
rs77559205720:22,563,488G/C—uncertain significance
rs20210877920:22,563,501T/C—likely benign
rs56140496120:22,563,517C/T—likely benign
rs52908099220:22,563,520C/G—benign
rs37251037220:22,563,521C/T—likely benign
rs74792631320:22,563,522C/G—uncertain significance
rs54248072120:22,563,526C/A—likely benign
rs20021184820:22,563,536C/T—benign
rs131016858520:22,563,556C/T—uncertain significance
rs94312809120:22,563,564C/T—uncertain significance
rs180084720:22,563,571G/A—benign
rs75226664120:22,563,575G/T—uncertain significance
rs20135064620:22,563,582C/G—likely benign
rs20045771120:22,563,584G/A—uncertain significance
rs251481389720:22,563,585A/C—uncertain significance
rs99760472820:22,563,587C/T—uncertain significance
rs74932851520:22,563,596C/A—likely benign
rs75503651320:22,563,599G/T—conflicting classifications of pathogenicity
rs74828766220:22,563,600C/T—uncertain significance
rs118135365320:22,563,605G/A—uncertain significance
rs19965413520:22,563,606C/T—likely benign
rs133894208920:22,563,622C/A—uncertain significance
rs125458112120:22,563,628C/A—likely benign
rs121975604820:22,563,634G/C—likely benign
rs76382454120:22,563,638G/C—uncertain significance
rs14997715920:22,563,661C/A—likely benign
rs14653818320:22,563,682C/T—likely benign
rs76825966820:22,563,689A/C—uncertain significance
rs20027584920:22,563,697C/T—likely benign
rs251481433720:22,563,718C/T—likely benign
rs117556774920:22,563,756C/G—uncertain significance
rs251481447120:22,563,759G/C—uncertain significance
rs77679404320:22,563,781G/C—likely benign
rs251481457020:22,563,788T/C—uncertain significance
rs94981792020:22,564,839T/C—likely benign
rs251481597720:22,564,850T/G—likely benign
rs36803818520:22,564,868C/A—uncertain significance
rs251481603620:22,564,897A/G—uncertain significance
rs133791820:22,567,608C/G——
rs120952320:22,567,942C/Tregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.