VPS37A

VPS37A subunit of ESCRT-I

Summary

This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

Known Variants186 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1131754138:17,104,142C/G—likely benign
rs1179607178:17,104,188G/A—benign
rs7528390258:17,104,723C/T—likely benign
rs592761288:17,104,735G/A—likely benign
rs9691378368:17,104,741G/A—likely benign
rs1460983918:17,104,777C/T—likely benign
rs12162880638:17,104,784G/T—uncertain significance
rs12735411238:17,104,785C/G—uncertain significance
rs8662060998:17,104,814G/A—uncertain significance
rs9776609038:17,104,825C/T—likely benign
rs24867001528:17,104,828C/G—likely benign
rs24867002078:17,104,830A/C—uncertain significance
rs1995770378:17,104,849G/T—uncertain significance
rs3738950208:17,104,852C/A—conflicting classifications of pathogenicity
rs1459452358:17,104,886G/A—benign
rs13187825908:17,104,893C/T—likely benign
rs12704487868:17,104,919T/G—likely benign
rs14577092238:17,104,923A/G—likely benign
rs7689195378:17,104,927C/G—likely benign
rs13280359078:17,123,400A/C—likely benign
rs10009107308:17,123,402A/C—likely benign
rs24868731638:17,123,415G/C—uncertain significance
rs7777880408:17,123,447A/C—likely benign
rs5554973288:17,123,449A/G—likely benign
rs7537953328:17,123,452G/A—likely benign
rs7574255368:17,123,453C/A—uncertain significance
rs7723988218:17,123,462A/G—likely benign
rs3683350338:17,123,464A/T—likely benign
rs69982888:17,123,747A/T—benign
rs69982998:17,123,765A/T—benign
rs735514868:17,125,578T/C—benign
rs78142868:17,125,647G/A—benign
rs2001117898:17,125,710A/G—likely benign
rs3715503908:17,125,757C/T—likely benign
rs3748859188:17,125,761T/C—likely benign
rs115557388:17,125,768T/C—benign
rs7584817588:17,125,781A/T—uncertain significance
rs24868981078:17,125,824A/G—uncertain significance
rs18136594868:17,125,827A/G—likely benign
rs18136634378:17,125,862C/A—uncertain significance
rs3735081188:17,125,863C/G—likely benign
rs7594507918:17,125,869A/G—likely benign
rs12899590688:17,125,892G/A—likely benign
rs597138548:17,125,895A/C—likely benign
rs732009488:17,125,957G/C—benign
rs558558778:17,126,222A/G—benign
rs7696304678:17,126,346C/T—likely benign
rs1171652648:17,126,348C/T—benign
rs9884258078:17,126,404C/G—uncertain significance
rs10201849338:17,126,410G/A—uncertain significance
rs7577351018:17,126,447C/G—uncertain significance
rs7793037118:17,126,453C/T—uncertain significance
rs7510174508:17,126,455G/A—uncertain significance
rs7545159958:17,126,461C/T—uncertain significance
rs18137237118:17,126,468A/G—uncertain significance
rs3751670068:17,126,482T/C—likely benign
rs15859864138:17,126,484A/G—likely benign
rs171242998:17,131,903A/G—benign
rs7655662138:17,132,222T/C—likely benign
rs7694186988:17,132,233T/C—likely benign
rs7521429408:17,132,240A/G—uncertain significance
rs1436896458:17,132,243C/T—likely benign
rs7523879588:17,132,245A/G—likely benign
rs7534911488:17,132,246T/C—uncertain significance
rs3714639148:17,132,249A/T—uncertain significance
rs3737754518:17,132,255C/A—uncertain significance
rs14051148468:17,132,259G/A—uncertain significance
rs7801465368:17,132,263G/A—likely benign
rs5600970448:17,132,271C/T—likely benign
rs7483548578:17,132,274A/T—uncertain significance
rs13263528338:17,132,276G/T—uncertain significance
rs7601653068:17,132,303C/G—uncertain significance
rs2004013678:17,132,337C/G—uncertain significance
rs15860113728:17,132,338T/C—likely benign
rs13469536228:17,132,351G/T—uncertain significance
rs18143616078:17,132,357A/C—uncertain significance
rs7780629978:17,132,364C/G—uncertain significance
rs7748173358:17,132,381C/A—uncertain significance
rs7599957618:17,132,385C/T—uncertain significance
rs12700972128:17,132,396C/G—uncertain significance
rs3712056998:17,132,401C/T—likely benign
rs3749644438:17,132,402G/T—uncertain significance
rs7514361608:17,132,425A/T—likely benign
rs18143708348:17,132,431G/T—likely benign
rs175026188:17,132,441A/T—benign
rs7575864038:17,132,448C/T—uncertain significance
rs12844433768:17,132,450G/A—uncertain significance
rs176873758:17,132,462A/G—likely benign
rs1458701178:17,132,466C/T—uncertain significance
rs7475963948:17,132,467G/A—uncertain significance
rs7693926598:17,132,474A/G—uncertain significance
rs13202938548:17,132,476C/T—likely benign
rs5318933378:17,132,477G/A—conflicting classifications of pathogenicity
rs3678697468:17,132,486C/G—likely benign
rs1162886708:17,132,608A/G—likely benign
rs732085668:17,133,615G/A—benign
rs732085678:17,133,655A/G—benign
rs37502518:17,133,727C/G—benign
rs1885663178:17,133,856C/T—likely benign
rs12534809398:17,133,887A/C—likely benign

Showing 100 of 186 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.