ITK
IL2 inducible T cell kinase
Summary
This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
Known Variants447 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs146866105 | 5:156,607,793 | C/T | — | benign |
| rs117806853 | 5:156,607,894 | A/G | — | uncertain significance |
| rs148134638 | 5:156,607,957 | C/A | — | benign |
| rs764145653 | 5:156,607,994 | C/T | — | likely benign |
| rs1393178996 | 5:156,607,998 | T/C | — | uncertain significance |
| rs750096142 | 5:156,608,003 | C/T | — | likely benign |
| rs2113732596 | 5:156,608,012 | A/G | — | likely benign |
| rs2113732600 | 5:156,608,014 | A/G | — | uncertain significance |
| rs765948222 | 5:156,608,021 | C/A | — | conflicting classifications of pathogenicity |
| rs781686293 | 5:156,608,037 | C/T | — | pathogenic |
| rs909127502 | 5:156,608,060 | G/A | — | likely benign |
| rs1580869283 | 5:156,608,070 | G/T | — | uncertain significance |
| rs201513154 | 5:156,608,073 | C/T | — | uncertain significance |
| rs397514261 | 5:156,608,074 | G/A | missense variant | pathogenic |
| rs146496148 | 5:156,608,075 | C/A | — | likely benign |
| rs1753503357 | 5:156,608,079 | T/C | — | uncertain significance |
| rs2480508022 | 5:156,608,087 | A/G | — | likely benign |
| rs1753503934 | 5:156,608,100 | C/T | — | likely benign |
| rs201892355 | 5:156,608,119 | G/A | — | uncertain significance |
| rs1753504528 | 5:156,608,122 | A/T | — | uncertain significance |
| rs1345629562 | 5:156,608,130 | T/C | — | uncertain significance |
| rs200603754 | 5:156,608,139 | T/C | — | conflicting classifications of pathogenicity |
| rs409602 | 5:156,608,284 | T/A | — | benign |
| rs411174 | 5:156,609,000 | G/A | intron variant | — |
| rs2434973 | 5:156,613,641 | T/C | intron variant | — |
| rs25855 | 5:156,624,400 | A/C | — | — |
| rs31223 | 5:156,625,279 | T/C | downstream gene variant | — |
| rs184733550 | 5:156,626,389 | A/G | coding sequence variant | — |
| rs2480551154 | 5:156,635,880 | A/T | — | likely benign |
| rs780173849 | 5:156,635,894 | C/T | — | conflicting classifications of pathogenicity |
| rs746991589 | 5:156,635,897 | C/T | — | uncertain significance |
| rs2480551478 | 5:156,635,898 | A/G | — | likely pathogenic |
| rs772972728 | 5:156,635,902 | G/C | — | uncertain significance |
| rs762768477 | 5:156,635,907 | G/A | — | uncertain significance |
| rs774040719 | 5:156,635,910 | C/T | — | uncertain significance |
| rs61743239 | 5:156,635,911 | G/A | — | conflicting classifications of pathogenicity |
| rs1419185852 | 5:156,635,920 | G/T | — | likely benign |
| rs752258747 | 5:156,635,921 | T/A | — | uncertain significance |
| rs200593448 | 5:156,635,925 | T/C | — | uncertain significance |
| rs1489407579 | 5:156,635,926 | T/C | — | likely benign |
| rs2480551603 | 5:156,635,929 | G/A | — | likely benign |
| rs1261260872 | 5:156,635,932 | C/G | — | likely benign |
| rs2113752364 | 5:156,635,935 | C/T | — | likely benign |
| rs757740059 | 5:156,635,937 | G/A | — | uncertain significance |
| rs2480551660 | 5:156,635,950 | T/G | — | likely benign |
| rs1286793954 | 5:156,635,955 | T/C | — | uncertain significance |
| rs1487057304 | 5:156,635,959 | G/A | — | likely benign |
| rs1386860362 | 5:156,635,973 | G/C | — | uncertain significance |
| rs768575926 | 5:156,635,980 | A/G | — | likely benign |
| rs140451238 | 5:156,635,989 | T/A | — | pathogenic |
| rs201403794 | 5:156,635,998 | G/A | — | conflicting classifications of pathogenicity |
| rs140464697 | 5:156,636,009 | G/A | — | uncertain significance |
| rs757220870 | 5:156,636,013 | A/C | — | likely benign |
| rs1156601303 | 5:156,636,020 | G/T | — | likely benign |
| rs12659723 | 5:156,636,320 | C/T | — | benign |
| rs199759038 | 5:156,638,290 | G/A | — | likely benign |
| rs776281180 | 5:156,638,303 | G/A | — | likely benign |
| rs765858330 | 5:156,638,321 | A/G | — | likely benign |
| rs763414415 | 5:156,638,330 | T/C | — | likely benign |
| rs1483493846 | 5:156,638,333 | T/C | — | likely benign |
| rs1189784154 | 5:156,638,336 | A/G | — | likely benign |
| rs372181411 | 5:156,638,340 | C/T | — | uncertain significance |
| rs751865122 | 5:156,638,341 | G/C | — | uncertain significance |
| rs1754188575 | 5:156,638,349 | C/T | — | uncertain significance |
| rs1293136647 | 5:156,638,350 | G/A | — | uncertain significance |
| rs752789103 | 5:156,638,356 | G/A | — | uncertain significance |
| rs756139529 | 5:156,638,357 | C/G | — | likely benign |
| rs778856924 | 5:156,638,361 | G/A | — | uncertain significance |
| rs1360242669 | 5:156,638,369 | C/T | — | likely benign |
| rs150470437 | 5:156,638,377 | A/G | — | uncertain significance |
| rs746749131 | 5:156,638,389 | C/T | — | likely benign |
| rs30139 | 5:156,641,045 | G/A | — | benign |
| rs751331298 | 5:156,641,185 | G/A | — | likely benign |
| rs372285130 | 5:156,641,193 | C/T | — | likely benign |
| rs778357395 | 5:156,641,205 | C/T | — | uncertain significance |
| rs1754250689 | 5:156,641,206 | G/A | — | likely benign |
| rs2113755827 | 5:156,641,215 | T/C | — | likely benign |
| rs1204901741 | 5:156,641,216 | A/C | — | uncertain significance |
| rs759851827 | 5:156,641,220 | G/A | — | uncertain significance |
| rs577305220 | 5:156,641,232 | A/G | — | conflicting classifications of pathogenicity |
| rs1362373639 | 5:156,641,240 | C/A | — | uncertain significance |
| rs2480559781 | 5:156,641,246 | T/C | — | uncertain significance |
| rs775741366 | 5:156,641,254 | G/A | — | uncertain significance |
| rs201959697 | 5:156,641,262 | A/G | — | uncertain significance |
| rs2480559834 | 5:156,641,265 | G/A | — | pathogenic |
| rs1459993484 | 5:156,641,272 | C/T | — | conflicting classifications of pathogenicity |
| rs1032262309 | 5:156,641,275 | T/C | — | likely benign |
| rs764229263 | 5:156,641,278 | T/C | — | likely benign |
| rs540238373 | 5:156,641,283 | T/C | — | uncertain significance |
| rs2113755882 | 5:156,641,284 | G/A | — | likely benign |
| rs75593900 | 5:156,641,286 | A/T | — | uncertain significance |
| rs374781246 | 5:156,641,290 | G/A | — | likely benign |
| rs1462784461 | 5:156,641,299 | A/G | — | likely benign |
| rs372432770 | 5:156,641,310 | A/G | — | uncertain significance |
| rs1463419892 | 5:156,641,315 | G/A | — | uncertain significance |
| rs755833813 | 5:156,641,326 | G/C | — | uncertain significance |
| rs2480559986 | 5:156,641,349 | C/T | — | likely benign |
| rs152112 | 5:156,644,624 | T/C | — | benign |
| rs2288504 | 5:156,644,649 | A/G | — | benign |
| rs1754330526 | 5:156,644,860 | T/C | — | likely benign |
Showing 100 of 447 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.