BLK
BLK proto-oncogene, Src family tyrosine kinase
Summary
This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
Known Variants335 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2486090963 | 8:11,331,746 | T/A | — | likely benign |
| rs4840568 | 8:11,351,019 | G/A | regulatory region variant | — |
| rs538706235 | 8:11,351,571 | C/T | — | uncertain significance |
| rs115316286 | 8:11,351,572 | G/A | — | likely benign |
| rs761744676 | 8:11,351,618 | G/A | — | uncertain significance |
| rs886062589 | 8:11,351,627 | A/C | — | uncertain significance |
| rs148891021 | 8:11,351,654 | T/C | — | likely benign |
| rs142686759 | 8:11,351,661 | C/A | — | likely benign |
| rs554033678 | 8:11,351,662 | G/A | — | uncertain significance |
| rs886062590 | 8:11,351,727 | G/A | — | uncertain significance |
| rs151046937 | 8:11,351,798 | C/G | — | likely benign |
| rs886062591 | 8:11,351,835 | C/T | — | uncertain significance |
| rs559867785 | 8:11,351,893 | C/T | — | uncertain significance |
| rs886062592 | 8:11,351,899 | C/T | — | uncertain significance |
| rs1468476015 | 8:11,351,901 | G/A | — | uncertain significance |
| rs922483 | 8:11,351,912 | C/T | — | benign |
| rs139110057 | 8:11,351,937 | G/T | — | benign |
| rs886062593 | 8:11,351,978 | C/T | — | uncertain significance |
| rs957686517 | 8:11,352,026 | G/A | — | uncertain significance |
| rs150444590 | 8:11,352,055 | C/T | — | uncertain significance |
| rs2250788 | 8:11,352,056 | A/G | — | benign |
| rs886062594 | 8:11,352,093 | T/C | — | uncertain significance |
| rs2618476 | 8:11,352,541 | T/G | — | — |
| rs2736346 | 8:11,359,112 | G/A | regulatory region variant | — |
| rs1600249 | 8:11,359,638 | G/C | — | — |
| rs6980884 | 8:11,362,275 | C/A | intron variant | — |
| rs12677903 | 8:11,372,637 | T/A | — | — |
| rs2248932 | 8:11,391,650 | A/G | regulatory region variant | — |
| rs2248325 | 8:11,396,874 | A/G | regulatory region variant | — |
| rs2245260 | 8:11,400,455 | T/G | — | benign |
| rs74961098 | 8:11,400,479 | C/A | — | benign |
| rs12386974 | 8:11,400,628 | C/G | — | benign |
| rs80167929 | 8:11,400,650 | A/G | — | benign |
| rs2245250 | 8:11,400,680 | G/A | — | benign |
| rs751122425 | 8:11,400,741 | T/C | — | uncertain significance |
| rs151045602 | 8:11,400,743 | G/T | — | uncertain significance |
| rs371790094 | 8:11,400,747 | G/A | — | uncertain significance |
| rs113656715 | 8:11,400,751 | C/T | — | likely benign |
| rs147022480 | 8:11,400,759 | C/T | — | uncertain significance |
| rs536630306 | 8:11,400,760 | G/A | — | likely benign |
| rs142129056 | 8:11,400,772 | G/A | — | benign |
| rs769734763 | 8:11,400,774 | C/T | — | uncertain significance |
| rs574731221 | 8:11,400,800 | T/C | — | uncertain significance |
| rs138428717 | 8:11,400,805 | C/T | — | likely benign |
| rs149279535 | 8:11,400,814 | G/A | — | conflicting classifications of pathogenicity |
| rs1585387563 | 8:11,400,817 | C/A | — | uncertain significance |
| rs775270203 | 8:11,400,821 | G/A | — | uncertain significance |
| rs369109733 | 8:11,400,826 | A/G | — | likely benign |
| rs75383960 | 8:11,400,835 | C/T | — | likely benign |
| rs76085840 | 8:11,400,836 | G/A | — | uncertain significance |
| rs764310667 | 8:11,400,841 | G/A | — | likely benign |
| rs142352008 | 8:11,400,849 | C/T | — | likely benign |
| rs371967598 | 8:11,400,854 | C/G | — | uncertain significance |
| rs2245232 | 8:11,400,944 | G/T | — | benign |
| rs60536897 | 8:11,401,111 | G/A | — | benign |
| rs11780851 | 8:11,401,116 | G/A | — | benign |
| rs7815435 | 8:11,403,368 | G/A | — | benign |
| rs1051351361 | 8:11,403,542 | T/C | — | likely benign |
| rs571333916 | 8:11,403,563 | T/C | — | likely benign |
| rs377568491 | 8:11,403,566 | C/A | — | uncertain significance |
| rs2486353826 | 8:11,403,569 | C/T | — | likely benign |
| rs202045056 | 8:11,403,576 | C/G | — | uncertain significance |
| rs35339715 | 8:11,403,580 | C/G | — | uncertain significance |
| rs140188373 | 8:11,403,589 | C/T | — | uncertain significance |
| rs746710451 | 8:11,403,590 | G/A | — | conflicting classifications of pathogenicity |
| rs375173243 | 8:11,403,591 | C/A | — | uncertain significance |
| rs377676972 | 8:11,403,594 | G/A | — | uncertain significance |
| rs202053568 | 8:11,403,601 | A/G | — | uncertain significance |
| rs773488674 | 8:11,403,612 | G/A | — | uncertain significance |
| rs1035007550 | 8:11,403,616 | A/G | — | uncertain significance |
| rs1318543059 | 8:11,403,619 | A/G | — | likely benign |
| rs1303068973 | 8:11,403,630 | G/A | — | likely benign |
| rs2244938 | 8:11,403,643 | C/G | — | likely benign |
| rs183422646 | 8:11,403,765 | G/A | — | likely benign |
| rs187911091 | 8:11,403,766 | G/C | — | likely benign |
| rs2244931 | 8:11,403,769 | G/C | — | benign |
| rs11779639 | 8:11,405,249 | G/A | — | benign |
| rs11786737 | 8:11,405,336 | C/T | — | benign |
| rs2306232 | 8:11,405,341 | C/A | — | benign |
| rs73195285 | 8:11,405,374 | G/T | — | benign |
| rs6994605 | 8:11,405,437 | A/G | — | benign |
| rs2486367798 | 8:11,405,541 | A/G | — | uncertain significance |
| rs146083915 | 8:11,405,542 | C/G | — | likely benign |
| rs138972988 | 8:11,405,552 | G/A | — | conflicting classifications of pathogenicity |
| rs748864580 | 8:11,405,568 | A/T | — | uncertain significance |
| rs55758736 | 8:11,405,576 | G/A | missense variant | likely benign |
| rs771224606 | 8:11,405,584 | T/A | — | uncertain significance |
| rs149393791 | 8:11,405,588 | C/G | — | likely benign |
| rs761768063 | 8:11,405,593 | C/G | — | uncertain significance |
| rs369654647 | 8:11,405,609 | G/C | — | uncertain significance |
| rs778435147 | 8:11,405,617 | G/C | — | uncertain significance |
| rs56185487 | 8:11,405,623 | G/A | — | benign |
| rs746294075 | 8:11,405,636 | T/A | — | uncertain significance |
| rs144839649 | 8:11,405,647 | G/C | — | likely benign |
| rs369967336 | 8:11,405,652 | C/A | — | likely benign |
| rs190334494 | 8:11,405,817 | G/A | — | likely benign |
| rs78789099 | 8:11,405,852 | A/C | — | benign |
| rs114501793 | 8:11,405,865 | C/T | — | likely benign |
| rs28625526 | 8:11,406,242 | C/A | — | benign |
| rs6999912 | 8:11,406,357 | A/G | — | benign |
Showing 100 of 335 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.