TGM1

transglutaminase 1

Summary

The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]

Known Variants780 total

rsidPosition (GRCh37)AllelesClassClinVar
rs97810090814:24,718,355C/T—uncertain significance
rs819303514:24,718,357G/T—likely benign
rs88605043714:24,718,429A/G—uncertain significance
rs222946314:24,718,515G/A—benign
rs37223186014:24,718,517G/A—uncertain significance
rs250248405014:24,718,525T/C—likely benign
rs19989831914:24,718,528A/G—likely benign
rs74770577814:24,718,532C/G—uncertain significance
rs75558941914:24,718,533G/A—uncertain significance
rs77840236914:24,718,534A/G—likely benign
rs74970101914:24,718,537T/C—likely benign
rs250248409514:24,718,543A/G—likely benign
rs103765402414:24,718,564A/G—likely benign
rs222833714:24,718,568T/A—likely benign
rs159456285914:24,718,570A/T—likely benign
rs148657882114:24,718,572C/A—uncertain significance
rs76090837414:24,718,575C/T—uncertain significance
rs20181199314:24,718,579G/A—likely benign
rs18864608414:24,718,596C/T—likely benign
rs213901358014:24,718,597A/T—uncertain significance
rs130442415914:24,718,623C/A—uncertain significance
rs204068074614:24,718,627G/A—likely benign
rs75233311514:24,718,630G/A—likely benign
rs135515238514:24,718,633A/G—likely benign
rs75563599314:24,718,636G/A—conflicting classifications of pathogenicity
rs124911157114:24,718,642C/T—likely benign
rs250248438014:24,718,643T/G—uncertain significance
rs75440132914:24,718,654T/C—likely benign
rs75765872014:24,718,657G/T—likely pathogenic
rs148314259214:24,718,669G/A—likely benign
rs20185304614:24,718,683G/A—conflicting classifications of pathogenicity
rs115818675614:24,718,687G/A—likely benign
rs74627866714:24,718,694C/T—uncertain significance
rs39812290414:24,718,695G/Astop gainedpathogenic
rs74716768414:24,718,708C/T—likely benign
rs3592665114:24,718,709G/A—benign
rs213901372014:24,718,711C/T—likely benign
rs20202090714:24,718,715C/T—conflicting classifications of pathogenicity
rs98556911614:24,718,719G/A—likely benign
rs120575029214:24,718,730T/C—uncertain significance
rs127506064614:24,718,738T/A—likely benign
rs76724121014:24,718,742A/T—uncertain significance
rs145664827314:24,718,744G/A—likely benign
rs75234962314:24,718,749T/C—pathogenic
rs76020357614:24,718,751T/G—likely benign
rs3498703214:24,718,754G/A—likely benign
rs250248469614:24,718,757G/C—likely benign
rs128273002514:24,718,759G/A—likely benign
rs250248472414:24,718,762A/C—likely benign
rs11220467014:24,719,383T/A——
rs4129383614:24,721,327C/Tregulatory region variant—
rs13798469214:24,723,339G/C—likely benign
rs134977998514:24,723,340G/A—likely benign
rs116925603214:24,723,343A/G—likely benign
rs76369186614:24,723,344G/A—likely benign
rs130061411114:24,723,346G/A—likely benign
rs77633896314:24,723,347G/C—likely benign
rs213901834414:24,723,348C/A—likely benign
rs213901834614:24,723,351G/A—likely benign
rs75893647914:24,723,361A/G—conflicting classifications of pathogenicity
rs14186400314:24,723,362C/T—uncertain significance
rs55495137114:24,723,363G/A—benign
rs119275028314:24,723,366G/A—likely benign
rs104650395514:24,723,369G/A—likely benign
rs74582650214:24,723,398C/T—uncertain significance
rs77204407714:24,723,399G/A—likely benign
rs77537334714:24,723,403C/T—uncertain significance
rs20210702614:24,723,405G/C—uncertain significance
rs15068681314:24,723,410C/T—conflicting classifications of pathogenicity
rs76146583714:24,723,411G/A—likely benign
rs13938707914:24,723,423G/A—conflicting classifications of pathogenicity
rs96012080714:24,723,426G/A—likely benign
rs37314804114:24,723,428C/T—likely benign
rs37740358114:24,723,429G/A—likely benign
rs89293502314:24,723,435G/A—likely benign
rs74940758814:24,723,462A/G—conflicting classifications of pathogenicity
rs75732187414:24,723,471G/A—likely benign
rs77990983614:24,723,480T/C—likely benign
rs74690259514:24,723,481G/A—uncertain significance
rs36954811814:24,723,486T/C—likely benign
rs98439432214:24,723,488C/A—pathogenic
rs90289239914:24,723,489C/A—likely benign
rs99716828114:24,723,490A/G—uncertain significance
rs74778187514:24,723,493A/C—pathogenic
rs250249195414:24,723,495C/G—likely pathogenic
rs76962138714:24,723,498A/T—likely benign
rs37343134514:24,723,499G/A—likely benign
rs122628361414:24,723,501G/A—likely benign
rs250249199114:24,723,505A/G—likely benign
rs77473427814:24,723,511C/T—likely benign
rs819303314:24,723,798C/T—benign
rs20166010614:24,723,856C/A—conflicting classifications of pathogenicity
rs250249276014:24,723,861T/C—likely benign
rs14317520914:24,723,879G/A—likely benign
rs130249313914:24,723,882G/A—likely benign
rs137069360814:24,723,887G/C—uncertain significance
rs76108283714:24,723,891G/A—likely benign
rs76438054814:24,723,892C/T—uncertain significance
rs213901891114:24,723,898C/T—pathogenic
rs14751612414:24,723,899G/A—likely pathogenic

Showing 100 of 780 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.