VAC14

VAC14 component of PIKFYVE complex

Summary

This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]

Known Variants375 total

rsidPosition (GRCh37)AllelesClassClinVar
rs144903596016:70,721,834G/C—likely benign
rs77346619916:70,721,842C/T—uncertain significance
rs77137594616:70,721,847C/T—uncertain significance
rs76953687916:70,721,851C/T—uncertain significance
rs76176219716:70,721,869C/T—uncertain significance
rs20009206916:70,721,870G/T—uncertain significance
rs11538688616:70,721,871C/T—benign
rs37673187116:70,721,874C/T—uncertain significance
rs14540197216:70,721,883C/T—uncertain significance
rs250742209316:70,721,903C/T—likely benign
rs76155594716:70,721,914C/A—uncertain significance
rs250742218516:70,721,920G/T—uncertain significance
rs76062304116:70,721,926G/A—likely benign
rs14769966616:70,721,936G/A—likely benign
rs75860063816:70,721,942G/A—likely benign
rs77790267616:70,721,946C/A—uncertain significance
rs37533960716:70,721,952G/A—uncertain significance
rs90923063916:70,721,971T/C—uncertain significance
rs77394223216:70,721,990G/T—uncertain significance
rs77170938016:70,721,999A/G—likely benign
rs77055059516:70,722,002A/T—likely benign
rs141179908316:70,722,003G/C—likely benign
rs90195884516:70,722,005G/A—likely benign
rs1186418616:70,722,103G/C—benign
rs15039050016:70,725,001C/Tintron variant—
rs382627116:70,725,589C/G——
rs11782574316:70,725,899C/T—likely benign
rs19213945416:70,726,576G/T—benign
rs1333281816:70,726,695G/A—benign
rs54213762316:70,726,707C/T—likely benign
rs36954777116:70,726,714C/T—benign
rs74685838216:70,726,715G/A—likely benign
rs97948652616:70,726,725C/T—uncertain significance
rs77649508616:70,726,726G/A—likely benign
rs11640899516:70,726,738C/T—benign
rs76190147216:70,726,752C/A—uncertain significance
rs75078762516:70,726,756C/T—likely benign
rs37377055516:70,726,762C/A—likely benign
rs76698190316:70,726,764G/A—uncertain significance
rs75551669316:70,726,769G/A—uncertain significance
rs122345319116:70,726,777C/T—likely benign
rs14088317616:70,726,786G/A—likely benign
rs227898316:70,726,795C/A—likely benign
rs77076843016:70,726,796G/A—uncertain significance
rs37162022016:70,726,807G/C—likely benign
rs56747778816:70,726,810C/T—likely benign
rs36868656816:70,726,816G/A—likely benign
rs76099261016:70,726,828G/A—likely benign
rs96710818516:70,726,829A/G—uncertain significance
rs56808894316:70,726,852G/A—likely benign
rs205362799716:70,726,853T/C—uncertain significance
rs116085069416:70,726,855C/T—likely benign
rs159784623916:70,726,868C/T—uncertain significance
rs76959610316:70,726,889G/C—likely benign
rs78010657116:70,726,894G/C—likely benign
rs227898416:70,726,940C/G—benign
rs77972769016:70,729,429G/C—likely benign
rs250744313116:70,729,435G/C—likely benign
rs214299102416:70,729,440T/G—likely benign
rs6175621716:70,729,448T/C—benign
rs205368848916:70,729,449G/T—uncertain significance
rs214299103916:70,729,456T/C—uncertain significance
rs75499813516:70,729,467A/G—uncertain significance
rs136353685616:70,729,477C/A—conflicting classifications of pathogenicity
rs91608715416:70,729,481C/T—likely benign
rs19075168416:70,729,495C/T—conflicting classifications of pathogenicity
rs75159413816:70,729,501A/G—uncertain significance
rs128256840316:70,729,505C/A—likely benign
rs14176750116:70,729,508G/C—likely benign
rs124922119816:70,729,517C/T—likely benign
rs36898763316:70,729,532T/C—likely benign
rs37283765416:70,729,536C/T—likely benign
rs14233190416:70,731,024C/T—benign
rs37133624016:70,731,065G/A—likely benign
rs134929075016:70,731,068C/T—likely benign
rs214299159216:70,731,070G/A—uncertain significance
rs159785188516:70,731,095G/A—likely benign
rs14620208816:70,731,101C/T—likely benign
rs106049966716:70,731,102G/A—likely pathogenic
rs205373024616:70,731,107G/A—likely benign
rs76895262316:70,731,119G/A—likely benign
rs250744887116:70,731,128G/T—likely benign
rs130954310316:70,731,130G/A—uncertain significance
rs131334018516:70,731,167G/A—likely benign
rs14643560416:70,731,172C/T—likely benign
rs224212616:70,731,302G/A—benign
rs992401416:70,731,328A/G—benign
rs993486916:70,731,344C/T—benign
rs720195216:70,732,483A/G—benign
rs224212716:70,732,492C/T—benign
rs76959032816:70,732,526C/T—likely benign
rs54179119716:70,732,527G/A—likely benign
rs37642957016:70,732,530C/T—likely benign
rs11135857116:70,732,531G/A—benign
rs135076434916:70,732,573C/T—likely benign
rs101282099316:70,732,579G/A—likely benign
rs75875044816:70,732,596G/A—likely benign
rs13792642916:70,732,600G/T—likely benign
rs20028204516:70,732,615G/A—likely benign
rs77506972316:70,732,627C/T—likely benign

Showing 100 of 375 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.