TMC6

transmembrane channel like 6

Summary

Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]

Known Variants657 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1697084217:76,107,393A/Gcoding sequence variant—
rs5894884917:76,108,985C/T—likely benign
rs225327717:76,109,073C/T—benign
rs90735465017:76,109,257G/A—uncertain significance
rs78102349517:76,109,260G/A—uncertain significance
rs14085255117:76,109,263G/A—conflicting classifications of pathogenicity
rs75559676617:76,109,264G/A—uncertain significance
rs11266010117:76,109,267C/G—uncertain significance
rs13895884917:76,109,269G/A—uncertain significance
rs37694171917:76,109,279C/T—uncertain significance
rs74735350317:76,109,280G/A—likely benign
rs96813375517:76,109,286C/T—likely benign
rs76916198717:76,109,288C/T—likely benign
rs251024673317:76,109,291C/T—uncertain significance
rs86623307417:76,109,292C/G—uncertain significance
rs126802036817:76,109,293C/G—uncertain significance
rs7915394617:76,109,296C/T—benign
rs76189302517:76,109,299G/A—likely benign
rs20047783917:76,109,300A/G—likely benign
rs7804654817:76,109,301A/G—likely benign
rs37337749317:76,109,312C/T—likely benign
rs91055717:76,109,358G/A—benign
rs37251156817:76,109,609A/G—likely benign
rs76983247917:76,109,611C/G—likely benign
rs145050705517:76,109,616C/T—likely benign
rs77553605817:76,109,618C/T—likely benign
rs19976573317:76,109,619G/A—benign
rs147033423217:76,109,626C/A—uncertain significance
rs76377773117:76,109,629C/G—uncertain significance
rs56432712717:76,109,632C/T—uncertain significance
rs18986333117:76,109,634C/A—uncertain significance
rs76074854017:76,109,657C/T—uncertain significance
rs37039466417:76,109,658G/C—uncertain significance
rs251025457117:76,109,665G/T—uncertain significance
rs75683065317:76,109,676G/A—likely benign
rs77856772017:76,109,684A/G—likely benign
rs207390591317:76,109,701C/A—uncertain significance
rs74863052617:76,109,703C/G—uncertain significance
rs122517730617:76,109,711A/C—likely benign
rs74931003617:76,109,713G/A—likely benign
rs261351417:76,110,518A/Gupstream gene variant—
rs74674062317:76,113,339G/A—likely benign
rs118565307417:76,113,341G/A—likely benign
rs76862723917:76,113,352T/C—uncertain significance
rs140490291317:76,113,358T/A—uncertain significance
rs207417079317:76,113,361G/A—pathogenic
rs146796727217:76,113,364C/T—uncertain significance
rs20084285717:76,113,372A/G—uncertain significance
rs76588996717:76,113,373G/A—likely benign
rs90769726017:76,113,377G/C—uncertain significance
rs75646846617:76,113,380G/A—likely benign
rs76448647917:76,113,381A/G—uncertain significance
rs37478524617:76,113,383C/A—uncertain significance
rs75432470917:76,113,387C/T—uncertain significance
rs77595413017:76,113,388G/A—uncertain significance
rs76577029717:76,113,396C/T—uncertain significance
rs56453112217:76,113,397G/A—uncertain significance
rs75851426017:76,113,416G/T—pathogenic
rs74729881317:76,113,424C/G—uncertain significance
rs14640222217:76,113,425G/A—likely benign
rs53346656917:76,113,432C/T—likely benign
rs37057197817:76,113,433G/A—likely benign
rs207417609817:76,113,439G/T—likely benign
rs37272036817:76,113,442G/A—likely benign
rs37170576317:76,113,447C/T—likely benign
rs37603626417:76,113,448G/A—likely benign
rs128147073917:76,113,533C/G—likely benign
rs20175870917:76,113,540G/A—likely benign
rs214506952417:76,113,563C/A—likely benign
rs207418548717:76,113,565C/T—uncertain significance
rs142718511017:76,113,569G/A—likely benign
rs13901032417:76,113,575A/G—likely benign
rs75512270017:76,113,582G/C—uncertain significance
rs78155255417:76,113,585T/G—uncertain significance
rs14937864317:76,113,600C/A—uncertain significance
rs77081942117:76,113,620G/A—likely benign
rs251032754917:76,113,621G/A—uncertain significance
rs74532117217:76,113,628T/G—likely benign
rs124175077717:76,113,630G/A—uncertain significance
rs139709011817:76,113,638C/T—likely benign
rs77499810917:76,113,639G/A—uncertain significance
rs76344248817:76,113,651C/T—uncertain significance
rs37598061117:76,113,652G/A—uncertain significance
rs75217008017:76,113,654A/G—uncertain significance
rs120269686617:76,113,658A/G—uncertain significance
rs120134174917:76,113,662C/G—uncertain significance
rs20104214517:76,113,667C/T—uncertain significance
rs75631247517:76,113,668G/A—likely benign
rs119593755017:76,113,669G/T—uncertain significance
rs75360518117:76,113,673C/T—uncertain significance
rs20029475917:76,113,674G/A—likely benign
rs14953282017:76,113,680G/A—likely benign
rs77966181217:76,113,693C/T—uncertain significance
rs55557777617:76,113,694G/A—uncertain significance
rs56073530817:76,113,704G/A—likely benign
rs251032972317:76,113,710G/A—likely benign
rs126447553017:76,113,713C/G—likely benign
rs74965746517:76,113,714G/T—pathogenic
rs119728823917:76,113,718G/A—uncertain significance
rs20221706217:76,113,726C/G—likely pathogenic

Showing 100 of 657 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.