TGM3
transglutaminase 3
Summary
Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs214757 | 20:2,274,810 | G/C | — | — |
| rs214782 | 20:2,281,970 | G/T | — | — |
| rs214785 | 20:2,283,457 | C/A | — | — |
| rs214787 | 20:2,283,667 | C/T | intron variant | — |
| rs214803 | 20:2,290,333 | A/C | — | benign |
| rs749279971 | 20:2,290,336 | C/G | — | likely benign |
| rs7262519 | 20:2,290,373 | C/T | — | likely benign |
| rs2084193064 | 20:2,290,418 | A/C | — | uncertain significance |
| rs766435407 | 20:2,290,851 | C/T | — | uncertain significance |
| rs746909518 | 20:2,290,878 | G/A | — | uncertain significance |
| rs745652639 | 20:2,290,965 | T/C | — | uncertain significance |
| rs139117716 | 20:2,290,970 | C/T | — | likely benign |
| rs768258292 | 20:2,290,979 | A/G | — | uncertain significance |
| rs927545164 | 20:2,291,683 | G/A | — | uncertain significance |
| rs778711289 | 20:2,291,705 | A/G | — | uncertain significance |
| rs138092626 | 20:2,291,716 | G/A | — | uncertain significance |
| rs6048066 | 20:2,291,722 | A/C | — | benign |
| rs781665191 | 20:2,291,735 | G/A | — | uncertain significance |
| rs756517645 | 20:2,293,554 | A/G | — | likely benign |
| rs775663590 | 20:2,293,625 | G/A | — | uncertain significance |
| rs199587679 | 20:2,297,711 | C/T | — | likely benign |
| rs200714008 | 20:2,297,759 | G/A | — | uncertain significance |
| rs214814 | 20:2,297,790 | A/G | — | benign |
| rs145397721 | 20:2,298,022 | C/T | — | uncertain significance |
| rs146355154 | 20:2,298,061 | C/A | — | benign |
| rs562802461 | 20:2,298,062 | G/A | — | uncertain significance |
| rs376202925 | 20:2,298,087 | C/T | — | likely benign |
| rs1480610239 | 20:2,298,102 | C/A | — | uncertain significance |
| rs45592035 | 20:2,305,872 | A/G | intron variant | — |
| rs111244888 | 20:2,306,546 | C/G | — | benign |
| rs375988138 | 20:2,308,786 | G/A | — | uncertain significance |
| rs777970589 | 20:2,308,820 | A/C | — | uncertain significance |
| rs141575267 | 20:2,308,849 | G/T | — | uncertain significance |
| rs146171554 | 20:2,308,868 | G/T | — | uncertain significance |
| rs137939351 | 20:2,308,881 | G/A | — | likely benign |
| rs770262543 | 20:2,308,918 | G/T | — | uncertain significance |
| rs34742355 | 20:2,308,959 | G/T | — | likely benign |
| rs780553362 | 20:2,308,975 | C/T | — | uncertain significance |
| rs779702016 | 20:2,312,665 | C/T | stop gained | pathogenic |
| rs2514330310 | 20:2,312,680 | G/C | — | uncertain significance |
| rs779420096 | 20:2,312,714 | C/T | — | uncertain significance |
| rs138085403 | 20:2,312,717 | C/T | — | benign |
| rs1042616 | 20:2,312,727 | A/G | — | likely benign |
| rs149539401 | 20:2,312,766 | C/T | — | benign |
| rs199578917 | 20:2,312,774 | T/C | — | uncertain significance |
| rs201410609 | 20:2,312,788 | A/C | — | uncertain significance |
| rs143127926 | 20:2,312,854 | A/G | — | uncertain significance |
| rs2514330593 | 20:2,312,876 | C/T | — | uncertain significance |
| rs34234428 | 20:2,312,895 | C/T | — | benign |
| rs369738624 | 20:2,312,901 | G/A | — | likely benign |
| rs200893750 | 20:2,312,938 | T/A | — | uncertain significance |
| rs375357846 | 20:2,312,944 | G/A | — | uncertain significance |
| rs112469577 | 20:2,312,961 | C/T | — | benign |
| rs199889633 | 20:2,315,791 | G/A | — | uncertain significance |
| rs753977843 | 20:2,315,814 | G/T | — | uncertain significance |
| rs781217795 | 20:2,315,830 | C/T | — | uncertain significance |
| rs761258830 | 20:2,315,846 | G/A | — | uncertain significance |
| rs145272149 | 20:2,315,862 | G/C | — | uncertain significance |
| rs4097062 | 20:2,320,494 | C/A | — | benign |
| rs45583632 | 20:2,320,495 | C/A | — | benign |
| rs374127604 | 20:2,320,522 | G/A | — | likely benign |
| rs76528811 | 20:2,320,535 | C/T | — | benign |
| rs780832990 | 20:2,320,584 | G/A | — | uncertain significance |
| rs367606978 | 20:2,320,605 | G/A | — | uncertain significance |
| rs114998364 | 20:2,321,094 | G/A | — | benign |
| rs2084375246 | 20:2,321,100 | A/G | — | uncertain significance |
| rs151074346 | 20:2,321,111 | C/T | — | uncertain significance |
| rs369393628 | 20:2,321,133 | C/T | — | uncertain significance |
| rs150949349 | 20:2,321,138 | C/T | — | benign |
| rs45518834 | 20:2,321,155 | A/G | — | likely benign |
| rs146717993 | 20:2,321,163 | C/T | — | likely benign |
| rs140423684 | 20:2,321,165 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.