FRMD4A

FERM domain containing 4A

Summary

This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Known Variants121 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54918801810:13,693,897C/T—likely benign
rs6175456210:13,693,898G/A—likely benign
rs11650062410:13,693,960T/A—benign
rs37446493210:13,696,453G/A—uncertain significance
rs77903777510:13,696,467A/G—uncertain significance
rs254225951510:13,696,482G/A—uncertain significance
rs76485993010:13,696,510C/T—uncertain significance
rs56291028510:13,698,641G/A—uncertain significance
rs37045927510:13,698,703G/A—likely benign
rs129639635110:13,698,707G/A—uncertain significance
rs37407468610:13,698,710C/T—uncertain significance
rs76135275110:13,698,714A/C—uncertain significance
rs14327419410:13,698,719G/A—uncertain significance
rs76552165510:13,698,727G/T—uncertain significance
rs75316861510:13,698,729C/G—uncertain significance
rs98363029610:13,698,752G/A—uncertain significance
rs19984787110:13,698,788C/A—uncertain significance
rs254232169310:13,698,839T/A—uncertain significance
rs54764477510:13,698,866G/A—uncertain significance
rs208220019010:13,698,890C/T—uncertain significance
rs77712998010:13,698,896G/A—uncertain significance
rs146020076710:13,698,905C/T—uncertain significance
rs37042580310:13,698,906G/A—uncertain significance
rs139780675010:13,698,908C/A—uncertain significance
rs92902796910:13,698,913G/C—uncertain significance
rs104878334610:13,698,914T/A—uncertain significance
rs208220494210:13,698,918C/T—uncertain significance
rs36864946910:13,698,927C/T—uncertain significance
rs37076589110:13,698,928G/A—benign
rs254232245910:13,698,943G/C—uncertain significance
rs124660457210:13,698,946C/G—uncertain significance
rs103242793310:13,698,962C/T—uncertain significance
rs13952039710:13,699,052G/A—uncertain significance
rs77408135310:13,699,145C/T—uncertain significance
rs130743277310:13,699,153G/A—likely benign
rs141423646010:13,699,155C/T—uncertain significance
rs103235439910:13,699,167C/T—uncertain significance
rs148582403110:13,699,220G/A—uncertain significance
rs13985392510:13,699,253G/T—uncertain significance
rs56137214810:13,699,409C/A—uncertain significance
rs75075575510:13,699,419C/T—uncertain significance
rs14583145510:13,699,438C/T—likely benign
rs254233523110:13,701,335A/C—uncertain significance
rs37286123710:13,701,350C/A—uncertain significance
rs76150205210:13,701,357G/C—uncertain significance
rs20177015310:13,701,374G/A—uncertain significance
rs77606190710:13,701,397G/C—uncertain significance
rs76730984410:13,701,403G/A—likely benign
rs75038962910:13,701,410C/A—uncertain significance
rs14447983510:13,701,424C/G—uncertain significance
rs15122746910:13,701,454C/T—likely benign
rs37402264910:13,702,307G/A—benign
rs56439328910:13,702,334G/A—uncertain significance
rs254234082310:13,702,406T/G—uncertain significance
rs13805920010:13,702,435C/T—benign
rs77280630210:13,702,484G/T—uncertain significance
rs37669630110:13,702,491G/A—uncertain significance
rs92997365810:13,702,493G/A—uncertain significance
rs37280686110:13,702,499A/C—uncertain significance
rs14570130910:13,702,500G/A—uncertain significance
rs7412310110:13,702,521G/A—benign
rs14278964410:13,702,525G/A—likely benign
rs77597127510:13,705,462G/A—uncertain significance
rs77546053610:13,708,103T/C—uncertain significance
rs37682611610:13,708,110C/T—likely benign
rs76314630210:13,708,147C/T—uncertain significance
rs14837315210:13,708,148G/A—likely benign
rs76733182810:13,708,156T/C—uncertain significance
rs7412182510:13,708,172T/C—benign
rs14717056810:13,708,259G/A—uncertain significance
rs36912505210:13,708,262G/A—uncertain significance
rs14966051210:13,708,272C/T—likely benign
rs77195209410:13,708,309C/T—uncertain significance
rs1125850910:13,712,449G/A—uncertain significance
rs37198177010:13,712,453C/T—uncertain significance
rs97049598810:13,712,455A/G—uncertain significance
rs144347051910:13,712,464C/T—uncertain significance
rs254237778910:13,712,496G/A—likely benign
rs77282340710:13,716,918C/T—uncertain significance
rs36932602310:13,716,954C/T—uncertain significance
rs37298884110:13,716,976C/T—uncertain significance
rs141846735710:13,717,028A/G—likely benign
rs475039810:13,730,293C/A——
rs75135171010:13,735,926G/A—likely benign
rs20076341010:13,735,935C/T—likely benign
rs14567796410:13,735,977C/T—likely benign
rs20007894110:13,735,978G/A—uncertain significance
rs36780829810:13,735,989G/A—likely benign
rs14131639610:13,736,015G/T—uncertain significance
rs37216344710:13,736,043G/C—likely benign
rs183099210:13,741,034G/C——
rs183099310:13,741,039T/C——
rs254246591110:13,743,389G/A—uncertain significance
rs78014365310:13,743,408A/G—likely benign
rs77902886510:13,743,427C/T—likely benign
rs36899355010:13,743,444C/T—uncertain significance
rs77789815510:13,749,070T/C—uncertain significance
rs154101010:13,755,544C/Tregulatory region variant—
rs1125856410:13,772,905A/C——
rs6175507210:13,779,898C/T—likely benign

Showing 100 of 121 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.