TMC8

transmembrane channel like 8

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 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]

Known Variants511 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1165876017:76,127,076T/G—benign
rs38360317:76,127,431C/G—benign
rs45248317:76,127,483T/C—benign
rs142659034517:76,127,675G/A—likely benign
rs77974896617:76,127,694T/C—uncertain significance
rs122214566417:76,127,700C/G—uncertain significance
rs94441323917:76,127,702G/C—likely benign
rs251074202317:76,127,703G/A—uncertain significance
rs74849953917:76,127,704C/T—uncertain significance
rs148696127117:76,127,711G/A—likely benign
rs77362983817:76,127,723G/A—likely benign
rs251074217017:76,127,725A/T—uncertain significance
rs142078959417:76,127,729G/A—likely benign
rs3574872117:76,127,738G/A—benign
rs207497267317:76,127,739G/A—uncertain significance
rs14501634717:76,127,746T/C—benign
rs75972705817:76,127,752G/C—uncertain significance
rs207497324317:76,127,753G/A—likely benign
rs76784313917:76,127,760G/A—uncertain significance
rs207497389317:76,127,762C/T—likely benign
rs121752923517:76,127,764C/T—uncertain significance
rs77580207717:76,127,771G/A—likely benign
rs76098630517:76,127,774C/G—likely benign
rs75369190117:76,127,775G/A—uncertain significance
rs37401752017:76,127,787C/G—conflicting classifications of pathogenicity
rs130531459017:76,127,796A/G—uncertain significance
rs77955220317:76,127,802G/C—uncertain significance
rs129652334017:76,127,806A/G—uncertain significance
rs20103962517:76,127,810C/T—likely benign
rs37022874217:76,127,813C/T—likely benign
rs20022624717:76,127,822G/T—uncertain significance
rs36759163117:76,127,836G/T—likely benign
rs251074583917:76,127,945G/A—likely benign
rs214557441117:76,127,951A/G—likely benign
rs120872800117:76,127,953C/G—likely benign
rs141754453917:76,127,970C/G—uncertain significance
rs136689004717:76,127,978C/T—likely benign
rs104447510717:76,127,979G/C—uncertain significance
rs90596921917:76,127,981G/A—likely benign
rs159889551117:76,127,988C/T—pathogenic
rs75769577517:76,127,998G/A—uncertain significance
rs251074680017:76,127,999C/G—likely benign
rs207499602017:76,128,000T/C—uncertain significance
rs207499638217:76,128,006C/T—uncertain significance
rs77942802217:76,128,007G/T—uncertain significance
rs251074689917:76,128,008G/A—likely benign
rs214557659517:76,128,022G/A—uncertain significance
rs207499723017:76,128,028C/A—uncertain significance
rs77273078917:76,128,039C/T—likely benign
rs103555595617:76,128,045C/T—uncertain significance
rs102155198017:76,128,061G/C—uncertain significance
rs96876290617:76,128,063C/G—uncertain significance
rs214557787017:76,128,068C/T—likely benign
rs53798170417:76,128,069C/G—conflicting classifications of pathogenicity
rs128862141317:76,128,072G/C—uncertain significance
rs207499997317:76,128,077T/C—likely benign
rs122217487817:76,128,081C/T—uncertain significance
rs214557823317:76,128,084T/C—uncertain significance
rs95449043717:76,128,090G/A—uncertain significance
rs20174914617:76,128,092G/A—benign
rs207500108117:76,128,098C/G—likely benign
rs91277064317:76,128,101C/T—likely benign
rs207500134917:76,128,104G/A—likely benign
rs130228418017:76,128,119C/A—likely benign
rs77696963117:76,128,121G/C—likely benign
rs214557972717:76,128,124C/A—likely benign
rs159889622117:76,128,127C/T—likely benign
rs18934856717:76,128,209C/G—likely benign
rs74304817:76,128,226C/G—benign
rs222163617:76,128,360G/A—benign
rs135498517:76,128,386C/G—benign
rs20027817617:76,128,426C/T—likely benign
rs75547092917:76,128,448G/C—uncertain significance
rs251075598217:76,128,453A/G—likely benign
rs124837230617:76,128,460C/T—uncertain significance
rs75925321417:76,128,461G/A—uncertain significance
rs74822394817:76,128,467A/T—uncertain significance
rs76997083817:76,128,481C/A—uncertain significance
rs77803338017:76,128,482G/A—uncertain significance
rs37186917417:76,128,501C/T—likely benign
rs52747396717:76,128,510C/T—likely benign
rs77401793917:76,128,511C/T—likely benign
rs251075615817:76,128,512T/C—uncertain significance
rs54722275117:76,128,514C/T—likely benign
rs122639711417:76,128,517C/T—uncertain significance
rs132223453117:76,128,522C/T—likely benign
rs77636773617:76,128,525A/C—likely benign
rs6175587317:76,128,531C/G—uncertain significance
rs14498181817:76,128,532G/C—uncertain significance
rs14682531317:76,128,534G/A—likely benign
rs75281688117:76,128,536T/G—uncertain significance
rs251075621917:76,128,552G/C—uncertain significance
rs251075622417:76,128,555C/G—likely benign
rs54928397517:76,128,557G/A—uncertain significance
rs56950745717:76,128,562C/A—uncertain significance
rs144560911117:76,128,568C/A—uncertain significance
rs214559914017:76,128,569C/T—uncertain significance
rs251075628017:76,128,574C/T—uncertain significance
rs14765348017:76,128,585C/T—likely benign
rs36923340817:76,128,592G/A—uncertain significance

Showing 100 of 511 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.