SYK
spleen associated tyrosine kinase
Summary
This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs290987 | 9:93,563,267 | T/A | upstream gene variant | — |
| rs290986 | 9:93,563,536 | A/G | regulatory region variant | benign |
| rs2562397 | 9:93,563,992 | G/T | — | — |
| rs2780701 | 9:93,567,281 | A/G | intron variant | — |
| rs7855964 | 9:93,606,103 | A/G | — | benign |
| rs2118631757 | 9:93,606,325 | G/A | — | uncertain significance |
| rs796052158 | 9:93,606,334 | G/T | — | likely benign |
| rs138271353 | 9:93,606,372 | C/T | — | likely benign |
| rs1483594474 | 9:93,606,373 | A/G | — | uncertain significance |
| rs2118636414 | 9:93,606,488 | T/G | — | uncertain significance |
| rs2278275 | 9:93,606,676 | A/G | — | benign |
| rs2537532779 | 9:93,607,846 | T/C | — | uncertain significance |
| rs4744016 | 9:93,614,898 | A/G | intron variant | — |
| rs200498885 | 9:93,624,597 | G/A | — | uncertain significance |
| rs772672206 | 9:93,624,620 | C/T | — | likely benign |
| rs1211510060 | 9:93,626,877 | G/C | — | uncertain significance |
| rs112619650 | 9:93,626,937 | A/C | — | likely benign |
| rs4744516 | 9:93,627,484 | T/C | — | benign |
| rs2991216 | 9:93,628,027 | A/C | — | — |
| rs1760124 | 9:93,629,347 | G/A | — | benign |
| rs10993738 | 9:93,633,240 | A/G | — | — |
| rs201840933 | 9:93,636,508 | G/A | — | uncertain significance |
| rs290227 | 9:93,636,664 | G/A | regulatory region variant | benign |
| rs1827861920 | 9:93,636,974 | C/A | — | likely pathogenic |
| rs200167353 | 9:93,637,007 | G/A | — | uncertain significance |
| rs2290890 | 9:93,637,015 | C/T | — | benign |
| rs2118870524 | 9:93,637,054 | G/T | — | uncertain significance |
| rs290223 | 9:93,639,846 | C/A | — | benign |
| rs2118888231 | 9:93,639,972 | G/A | — | uncertain significance |
| rs2290888 | 9:93,639,973 | G/C | — | benign |
| rs2290887 | 9:93,640,009 | G/A | — | benign |
| rs1304839707 | 9:93,640,021 | G/A | — | likely pathogenic |
| rs2290886 | 9:93,640,120 | C/T | — | benign |
| rs2290885 | 9:93,640,131 | C/T | — | benign |
| rs2118893859 | 9:93,641,071 | G/C | — | uncertain significance |
| rs147125933 | 9:93,641,102 | A/G | — | uncertain significance |
| rs2306041 | 9:93,641,175 | C/T | — | benign |
| rs2306040 | 9:93,641,199 | T/C | — | benign |
| rs200320837 | 9:93,641,212 | C/A | — | uncertain significance |
| rs763539783 | 9:93,641,213 | G/A | — | likely benign |
| rs2306039 | 9:93,641,282 | G/A | — | benign |
| rs2126053 | 9:93,650,015 | T/A | — | benign |
| rs774431067 | 9:93,650,067 | G/A | — | uncertain significance |
| rs1828636794 | 9:93,650,098 | C/A | — | pathogenic |
| rs369492720 | 9:93,650,821 | G/A | — | uncertain significance |
| rs761206068 | 9:93,650,908 | G/A | — | uncertain significance |
| rs1000735 | 9:93,654,616 | C/G | intron variant | — |
| rs158689 | 9:93,657,761 | A/T | regulatory region variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.