DNAJC5

DnaJ heat shock protein family (Hsp40) member C5

Summary

This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]

Known Variants344 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605692520:62,526,494C/T—uncertain significance
rs88605692720:62,526,502C/T—uncertain significance
rs88605692820:62,526,503G/T—uncertain significance
rs88605693020:62,526,528G/C—uncertain significance
rs75030249820:62,526,579A/G—uncertain significance
rs88605693220:62,526,593G/C—uncertain significance
rs88605693320:62,526,599C/G—uncertain significance
rs105752204320:62,526,643C/G—likely benign
rs88605693420:62,526,655G/A—uncertain significance
rs121684025220:62,526,687T/A—uncertain significance
rs105752188520:62,526,688G/T—likely benign
rs205336671620:62,526,691G/T—uncertain significance
rs56016213220:62,526,696G/A—benign
rs18505658920:62,526,719G/A—benign
rs54305911820:62,526,801G/C—likely benign
rs76015723820:62,531,472C/G——
rs18191309020:62,537,791C/Tupstream gene variant—
rs14300784720:62,538,698C/Tupstream gene variant—
rs606257620:62,544,258C/A——
rs7313657220:62,554,813T/Cdownstream gene variant—
rs7417982420:62,557,096C/Tregulatory region variant—
rs155587988420:62,559,679T/C—likely benign
rs137071550320:62,559,686A/G—uncertain significance
rs88792124820:62,559,705G/C—uncertain significance
rs75541013820:62,559,706A/G—uncertain significance
rs118374500620:62,559,707C/T—likely benign
rs139709407020:62,559,710G/A—likely benign
rs100627443720:62,559,712G/A—uncertain significance
rs14858549620:62,559,716G/A—likely benign
rs205363303520:62,559,718G/A—uncertain significance
rs122707833420:62,559,719C/T—likely benign
rs118466104820:62,559,723C/T—likely benign
rs79605240820:62,559,729A/G—uncertain significance
rs75310003020:62,559,737G/A—likely benign
rs205363321720:62,559,740G/C—uncertain significance
rs14414158520:62,559,743A/G—likely benign
rs37181980820:62,559,744T/C—likely benign
rs78015490720:62,559,750C/T—uncertain significance
rs77063859020:62,559,752C/T—likely benign
rs98149947720:62,559,753G/A—uncertain significance
rs205363339820:62,559,755C/T—likely benign
rs79605240920:62,559,756C/T—uncertain significance
rs74541925020:62,559,758T/C—likely benign
rs105752384920:62,559,764G/A—likely benign
rs118765008520:62,559,768A/G—uncertain significance
rs134870629120:62,559,772A/G—uncertain significance
rs18930854720:62,559,773C/T—conflicting classifications of pathogenicity
rs75372277320:62,559,774G/A—uncertain significance
rs119843013420:62,559,778C/T—uncertain significance
rs137432052820:62,559,784A/G—uncertain significance
rs155587989420:62,559,785T/G—uncertain significance
rs146615599320:62,559,789A/G—uncertain significance
rs214630398620:62,559,794A/G—likely benign
rs214630399320:62,559,797G/A—likely benign
rs94655941120:62,559,804C/T—uncertain significance
rs251679489920:62,559,805G/A—uncertain significance
rs205363387620:62,559,813G/T—uncertain significance
rs18190697220:62,559,815C/T—likely benign
rs37284318720:62,559,817A/G—likely benign
rs11476099020:62,559,920G/A—likely benign
rs81736220:62,559,964G/A—benign
rs7779732920:62,560,399C/T—benign
rs81736320:62,560,508C/T—benign
rs11531488820:62,560,601C/T—likely benign
rs18138232820:62,560,603C/T—likely benign
rs11678275520:62,560,604G/A—likely benign
rs79605241020:62,560,659T/G—uncertain significance
rs54111867920:62,560,662C/T—likely benign
rs77470305420:62,560,665G/C—uncertain significance
rs205364167720:62,560,668G/A—likely benign
rs52809697620:62,560,679A/G—conflicting classifications of pathogenicity
rs77573460720:62,560,683T/C—likely benign
rs14094845720:62,560,689C/T—likely benign
rs160088557520:62,560,698C/A—uncertain significance
rs11398707720:62,560,701C/T—benign
rs101598970520:62,560,704C/A—uncertain significance
rs96309437420:62,560,707C/T—likely benign
rs15126591320:62,560,710G/T—conflicting classifications of pathogenicity
rs77950306720:62,560,716C/T—likely benign
rs20201560820:62,560,717G/A—uncertain significance
rs75488778820:62,560,718C/T—uncertain significance
rs78116429620:62,560,719G/A—conflicting classifications of pathogenicity
rs143884132920:62,560,725G/A—likely benign
rs214630540420:62,560,731G/A—likely benign
rs76956662220:62,560,743C/T—likely benign
rs79605241120:62,560,744G/A—uncertain significance
rs13931281920:62,560,745C/T—conflicting classifications of pathogenicity
rs74605200020:62,560,746G/A—likely benign
rs135126966720:62,560,749C/T—likely benign
rs77245335120:62,560,750G/T—conflicting classifications of pathogenicity
rs138212057820:62,560,760C/T—uncertain significance
rs100220511820:62,560,761G/A—likely benign
rs76088179520:62,560,764C/T—likely benign
rs76926911320:62,560,765G/A—uncertain significance
rs214630547820:62,560,768A/C—uncertain significance
rs37616342120:62,560,782C/T—likely benign
rs205364297020:62,560,783T/C—uncertain significance
rs20149566620:62,560,785C/T—likely benign
rs76263857920:62,560,786G/T—uncertain significance
rs76607294320:62,560,788C/T—likely benign

Showing 100 of 344 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.