PADI3
peptidyl arginine deiminase 3
Summary
This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
Known Variants93 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2072933535 | 1:17,575,629 | C/G | — | likely benign |
| rs3763589 | 1:17,575,645 | A/C | — | benign |
| rs778378325 | 1:17,575,651 | G/T | — | uncertain significance |
| rs200581555 | 1:17,575,682 | C/T | — | uncertain significance |
| rs767598417 | 1:17,575,706 | C/A | — | uncertain significance |
| rs2977227 | 1:17,576,328 | T/G | — | — |
| rs185812078 | 1:17,584,408 | T/C | intron variant | — |
| rs150695491 | 1:17,586,122 | G/A | — | uncertain significance |
| rs3750300 | 1:17,586,134 | G/A | — | benign |
| rs200989099 | 1:17,586,158 | C/T | — | uncertain significance |
| rs201806996 | 1:17,586,194 | G/A | — | uncertain significance |
| rs371866777 | 1:17,588,649 | A/G | — | uncertain significance |
| rs894868384 | 1:17,588,664 | C/T | — | uncertain significance |
| rs142129409 | 1:17,588,689 | T/A | missense variant | pathogenic |
| rs192405186 | 1:17,591,301 | T/C | intron variant | — |
| rs3003429 | 1:17,591,679 | T/C | regulatory region variant | — |
| rs12032160 | 1:17,592,185 | G/T | — | uncertain significance |
| rs145809596 | 1:17,593,232 | C/T | — | likely benign |
| rs556844138 | 1:17,593,247 | G/A | — | uncertain significance |
| rs202060511 | 1:17,593,309 | C/A | — | uncertain significance |
| rs199615967 | 1:17,593,310 | C/T | — | likely pathogenic |
| rs1411685307 | 1:17,593,313 | C/T | — | uncertain significance |
| rs2272629 | 1:17,593,316 | A/G | — | benign |
| rs759073740 | 1:17,594,400 | C/A | — | uncertain significance |
| rs201198322 | 1:17,594,402 | T/C | — | likely benign |
| rs139876092 | 1:17,594,433 | C/T | — | pathogenic |
| rs142357785 | 1:17,594,456 | C/T | — | likely benign |
| rs369350547 | 1:17,594,457 | G/A | — | uncertain significance |
| rs145276833 | 1:17,596,738 | T/G | — | benign |
| rs779555590 | 1:17,596,759 | T/A | — | uncertain significance |
| rs145296609 | 1:17,596,817 | C/T | — | likely benign |
| rs371752333 | 1:17,596,826 | G/A | — | uncertain significance |
| rs374284289 | 1:17,596,833 | G/C | — | uncertain significance |
| rs778805313 | 1:17,596,853 | G/A | — | uncertain significance |
| rs769692697 | 1:17,596,862 | G/A | — | uncertain significance |
| rs375553328 | 1:17,596,902 | A/G | — | uncertain significance |
| rs1557508308 | 1:17,597,372 | A/G | — | pathogenic |
| rs139426141 | 1:17,597,398 | A/G | — | conflicting classifications of pathogenicity |
| rs144080386 | 1:17,597,423 | C/T | missense variant | pathogenic |
| rs761993755 | 1:17,597,476 | C/T | — | uncertain significance |
| rs773298347 | 1:17,597,617 | G/A | — | uncertain significance |
| rs2293916 | 1:17,597,655 | C/T | — | benign |
| rs74705609 | 1:17,599,467 | C/A | — | — |
| rs2100591354 | 1:17,599,840 | G/C | — | uncertain significance |
| rs931325744 | 1:17,599,848 | T/C | — | uncertain significance |
| rs777021530 | 1:17,599,863 | C/T | — | uncertain significance |
| rs765936058 | 1:17,599,866 | C/T | — | uncertain significance |
| rs11584781 | 1:17,599,897 | C/T | — | benign |
| rs1347673734 | 1:17,599,924 | C/A | — | uncertain significance |
| rs143899778 | 1:17,601,155 | G/A | — | uncertain significance |
| rs147274679 | 1:17,601,159 | A/G | — | likely benign |
| rs998243849 | 1:17,601,160 | C/T | — | uncertain significance |
| rs139324096 | 1:17,601,163 | C/T | — | likely benign |
| rs11585357 | 1:17,601,165 | C/T | — | benign |
| rs139813503 | 1:17,601,166 | G/A | — | uncertain significance |
| rs2073303534 | 1:17,601,208 | G/A | — | uncertain significance |
| rs968269876 | 1:17,601,230 | A/G | — | uncertain significance |
| rs1219322057 | 1:17,601,233 | G/A | — | uncertain significance |
| rs140586422 | 1:17,601,263 | T/C | — | uncertain significance |
| rs147655668 | 1:17,601,266 | G/A | — | uncertain significance |
| rs2293918 | 1:17,601,269 | G/A | — | uncertain significance |
| rs778710556 | 1:17,603,045 | C/T | — | uncertain significance |
| rs200537876 | 1:17,603,046 | G/T | — | uncertain significance |
| rs148039282 | 1:17,603,075 | C/T | — | uncertain significance |
| rs376389875 | 1:17,603,081 | G/A | — | uncertain significance |
| rs756988661 | 1:17,603,141 | C/T | — | uncertain significance |
| rs2073335942 | 1:17,603,151 | A/G | — | uncertain significance |
| rs11586393 | 1:17,603,264 | C/T | — | benign |
| rs186497611 | 1:17,603,275 | C/T | — | uncertain significance |
| rs759343182 | 1:17,603,276 | G/A | — | uncertain significance |
| rs781009577 | 1:17,603,341 | G/A | — | uncertain significance |
| rs72646785 | 1:17,603,472 | G/T | regulatory region variant | — |
| rs138892691 | 1:17,607,159 | C/T | — | likely benign |
| rs759391605 | 1:17,607,175 | G/A | — | uncertain significance |
| rs766642983 | 1:17,607,180 | G/T | — | uncertain significance |
| rs146338253 | 1:17,607,185 | G/C | — | uncertain significance |
| rs760902791 | 1:17,607,187 | G/A | — | uncertain significance |
| rs140482516 | 1:17,607,199 | C/T | — | pathogenic |
| rs530171012 | 1:17,607,236 | T/A | — | uncertain significance |
| rs141891070 | 1:17,607,272 | C/T | — | likely benign |
| rs34097903 | 1:17,607,274 | G/A | — | conflicting classifications of pathogenicity |
| rs760934091 | 1:17,609,368 | C/A | — | uncertain significance |
| rs144944758 | 1:17,609,392 | C/A | missense variant | pathogenic |
| rs751053861 | 1:17,609,402 | A/G | — | uncertain significance |
| rs148930933 | 1:17,609,422 | G/A | — | uncertain significance |
| rs144763474 | 1:17,609,431 | C/T | — | uncertain significance |
| rs2293920 | 1:17,609,448 | T/G | — | benign |
| rs528253540 | 1:17,609,464 | A/G | — | uncertain significance |
| rs1250919575 | 1:17,609,485 | C/G | — | uncertain significance |
| rs757050658 | 1:17,609,512 | C/T | — | uncertain significance |
| rs1458281916 | 1:17,609,515 | T/C | — | uncertain significance |
| rs1437225536 | 1:17,609,534 | G/A | — | pathogenic |
| rs61731901 | 1:17,609,560 | A/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.