TEC
tec protein tyrosine kinase
Summary
The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1247084546 | 4:48,139,472 | T/C | — | uncertain significance |
| rs138487528 | 4:48,139,480 | G/A | — | uncertain significance |
| rs149649815 | 4:48,140,723 | A/C | — | uncertain significance |
| rs769831718 | 4:48,140,829 | C/T | — | uncertain significance |
| rs763650133 | 4:48,143,408 | G/A | — | uncertain significance |
| rs868616029 | 4:48,147,446 | A/G | — | uncertain significance |
| rs140868704 | 4:48,147,546 | T/C | — | uncertain significance |
| rs2476410382 | 4:48,151,584 | G/C | — | uncertain significance |
| rs543420319 | 4:48,151,627 | T/G | — | uncertain significance |
| rs190042440 | 4:48,163,673 | T/C | intron variant | — |
| rs746270033 | 4:48,169,860 | T/G | — | uncertain significance |
| rs574810323 | 4:48,169,917 | G/C | — | uncertain significance |
| rs752337530 | 4:48,169,931 | T/C | — | uncertain significance |
| rs781592886 | 4:48,169,963 | G/A | — | uncertain significance |
| rs2475086430 | 4:48,169,971 | C/T | — | likely pathogenic |
| rs2475101521 | 4:48,178,131 | C/T | — | uncertain significance |
| rs1055939759 | 4:48,178,167 | T/C | — | uncertain significance |
| rs62309332 | 4:48,186,145 | A/T | intron variant | — |
| rs28491198 | 4:48,190,905 | T/C | intron variant | — |
| rs12500534 | 4:48,197,145 | T/C | regulatory region variant | — |
| rs7664091 | 4:48,197,389 | A/T | — | — |
| rs73138446 | 4:48,204,780 | T/C | intron variant | — |
| rs2664035 | 4:48,220,839 | G/A | intron variant | — |
| rs779567477 | 4:48,230,547 | T/C | — | uncertain significance |
| rs35912788 | 4:48,234,230 | G/A | intron variant | — |
| rs559746326 | 4:48,256,947 | T/G | — | — |
| rs551289560 | 4:48,267,404 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.