UNC45B

unc-45 myosin chaperone B

Summary

This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Known Variants241 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7938304117:33,475,036G/C—likely benign
rs7593541717:33,475,150G/A—likely benign
rs7398954717:33,475,312G/A—benign
rs13940486617:33,475,326G/A—likely benign
rs132712447017:33,475,353C/T—uncertain significance
rs75201315517:33,475,355G/A—uncertain significance
rs20057528017:33,475,367T/G—uncertain significance
rs20045840517:33,475,378C/A—likely benign
rs15005043317:33,475,379C/T—benign
rs156775168117:33,475,395A/G—uncertain significance
rs77057905117:33,475,401C/A—uncertain significance
rs1697065617:33,475,426C/T—benign
rs76227046817:33,475,427C/T—uncertain significance
rs76770663517:33,475,428G/A—uncertain significance
rs75095259517:33,475,431C/A—uncertain significance
rs57679225217:33,475,449C/T—likely benign
rs7398954917:33,475,611G/A—likely benign
rs14714570517:33,475,644C/T—likely benign
rs14506290517:33,476,000C/T—likely benign
rs1697065917:33,476,001A/G—benign
rs56843870617:33,476,688C/A——
rs7504922417:33,476,910A/G—likely benign
rs37373852717:33,477,071C/A—likely benign
rs74659458817:33,477,073A/G—uncertain significance
rs18757884417:33,477,087G/A—likely benign
rs74949846917:33,477,109G/A—uncertain significance
rs77015617717:33,477,158C/T—likely benign
rs19973857517:33,477,159G/A—uncertain significance
rs36776289017:33,477,179C/T—likely benign
rs75706342117:33,477,200C/A—uncertain significance
rs8010096817:33,477,242G/A—benign
rs36977124617:33,477,259C/T—benign
rs18372692417:33,477,483T/C—likely benign
rs479604217:33,478,185C/Gintron variant—
rs2839256917:33,479,775G/A—likely benign
rs7990196617:33,479,867A/G—likely benign
rs76008071317:33,479,970A/G—uncertain significance
rs75339268617:33,479,991A/T—uncertain significance
rs2844287917:33,480,084C/T—likely benign
rs7709641117:33,481,287A/T—benign
rs7502160117:33,481,387A/C—likely benign
rs11296929717:33,481,550G/A—likely benign
rs74685894617:33,481,599A/C—uncertain significance
rs14271902917:33,481,620C/T—uncertain significance
rs37265288617:33,481,621G/T—uncertain significance
rs7774035217:33,481,656A/G—conflicting classifications of pathogenicity
rs75399194717:33,481,658T/A—uncertain significance
rs209204520317:33,481,671C/T—likely benign
rs3574920817:33,481,717C/T—benign
rs76792998217:33,481,732C/T—uncertain significance
rs75521833717:33,481,746G/A—uncertain significance
rs11324014417:33,482,063G/A—likely benign
rs991619517:33,482,092G/A—likely benign
rs53826118217:33,482,174G/C—likely benign
rs11641527517:33,482,231A/G—likely benign
rs7398955017:33,482,245C/T—benign
rs14838977317:33,482,325T/A—conflicting classifications of pathogenicity
rs250848717317:33,482,359C/T—likely benign
rs37698703017:33,482,365G/A—uncertain significance
rs76644843217:33,482,387T/A—uncertain significance
rs75668972717:33,482,430T/C—uncertain significance
rs37142411717:33,482,440G/A—likely benign
rs75229985017:33,482,475T/C—uncertain significance
rs6174998817:33,482,487G/C—benign
rs1186966217:33,482,522G/A—benign
rs1165031217:33,482,744A/G—benign
rs204623717:33,486,191A/G—benign
rs11467563517:33,486,308A/G—likely benign
rs8014394817:33,486,374C/T—benign
rs20202431117:33,486,441C/G—uncertain significance
rs18596173817:33,486,447A/C—uncertain significance
rs19028232317:33,486,519C/T—uncertain significance
rs159791229317:33,486,522G/A—uncertain significance
rs18321417417:33,486,548C/A—likely benign
rs14548631817:33,486,562A/G—likely benign
rs7649237617:33,490,709G/A—likely benign
rs11608431917:33,490,717T/C—likely benign
rs650544417:33,490,763G/A—benign
rs11235785917:33,490,830G/A—likely benign
rs7328898417:33,490,834G/C—benign
rs807965417:33,490,991A/G—benign
rs136969967117:33,491,026T/A—uncertain significance
rs125476751017:33,491,038T/A—uncertain significance
rs7328898617:33,491,069G/A—benign
rs76341290517:33,491,106C/T—uncertain significance
rs11636206217:33,491,133C/T—likely benign
rs14805704417:33,491,151G/A—uncertain significance
rs20191827717:33,491,156C/G—uncertain significance
rs77925542617:33,491,161G/A—uncertain significance
rs4138954517:33,491,164G/A—benign
rs14332787817:33,491,174G/A—benign
rs54821288417:33,491,185C/T—uncertain significance
rs76901074317:33,491,189A/G—uncertain significance
rs7398955117:33,491,343A/G—benign
rs806731417:33,491,452A/G—benign
rs11444587217:33,491,471G/A—likely benign
rs76819165817:33,495,095C/G—likely benign
rs14275291117:33,495,111A/G—uncertain significance
rs77655888017:33,495,128G/T—uncertain significance
rs76535680017:33,495,133T/C—uncertain significance

Showing 100 of 241 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.