BCAR1
BCAR1 scaffold protein, Cas family member
Summary
The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017]
Known Variants114 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs117256701 | 16:75,261,647 | C/T | regulatory region variant | — |
| rs2507329449 | 16:75,263,491 | T/C | — | uncertain significance |
| rs763677402 | 16:75,263,537 | T/C | — | uncertain significance |
| rs748287374 | 16:75,263,551 | C/T | — | uncertain significance |
| rs923927024 | 16:75,263,593 | C/T | — | uncertain significance |
| rs7190458 | 16:75,263,661 | G/A | synonymous variant | — |
| rs757527015 | 16:75,263,717 | C/T | — | uncertain significance |
| rs781121746 | 16:75,263,718 | G/A | — | likely benign |
| rs111683417 | 16:75,263,720 | C/T | — | uncertain significance |
| rs757420974 | 16:75,263,761 | T/C | — | uncertain significance |
| rs546470998 | 16:75,263,806 | G/A | — | uncertain significance |
| rs199960148 | 16:75,263,809 | G/A | — | uncertain significance |
| rs537808369 | 16:75,263,854 | G/A | — | uncertain significance |
| rs373196130 | 16:75,263,885 | G/A | — | uncertain significance |
| rs376571253 | 16:75,263,905 | C/T | — | uncertain significance |
| rs764493965 | 16:75,263,917 | T/C | — | uncertain significance |
| rs201219624 | 16:75,267,734 | G/A | — | likely benign |
| rs144649739 | 16:75,267,766 | T/C | — | benign |
| rs774685128 | 16:75,267,775 | C/T | — | uncertain significance |
| rs763732321 | 16:75,268,826 | C/A | — | uncertain significance |
| rs779047175 | 16:75,268,848 | T/C | — | uncertain significance |
| rs1327511106 | 16:75,268,854 | G/A | — | uncertain significance |
| rs534427070 | 16:75,268,960 | G/T | — | uncertain significance |
| rs112019183 | 16:75,268,962 | G/A | — | likely benign |
| rs61743104 | 16:75,268,977 | C/T | — | likely benign |
| rs750919906 | 16:75,269,002 | C/T | — | uncertain significance |
| rs749601292 | 16:75,269,005 | G/A | — | uncertain significance |
| rs61743091 | 16:75,269,029 | C/T | — | benign |
| rs746449287 | 16:75,269,064 | C/T | — | uncertain significance |
| rs79704652 | 16:75,269,095 | C/T | — | benign |
| rs755484021 | 16:75,269,100 | C/T | — | uncertain significance |
| rs761015103 | 16:75,269,119 | G/C | — | uncertain significance |
| rs16957552 | 16:75,269,124 | T/C | — | benign |
| rs200831106 | 16:75,269,131 | C/T | — | uncertain significance |
| rs370160349 | 16:75,269,143 | G/A | — | likely benign |
| rs898099540 | 16:75,269,152 | C/G | — | uncertain significance |
| rs1233322595 | 16:75,269,225 | G/C | — | uncertain significance |
| rs2077071163 | 16:75,269,229 | C/T | — | uncertain significance |
| rs61738400 | 16:75,269,255 | G/A | — | benign |
| rs767903911 | 16:75,269,269 | C/T | — | uncertain significance |
| rs950206545 | 16:75,269,287 | G/A | — | likely benign |
| rs367866361 | 16:75,269,289 | T/A | — | uncertain significance |
| rs371801925 | 16:75,269,299 | G/T | — | uncertain significance |
| rs758226581 | 16:75,269,301 | G/A | — | uncertain significance |
| rs16957558 | 16:75,269,325 | C/A | — | benign |
| rs141024553 | 16:75,269,340 | G/A | — | uncertain significance |
| rs764871357 | 16:75,269,344 | C/T | — | uncertain significance |
| rs758457850 | 16:75,269,347 | C/T | — | uncertain significance |
| rs1158645944 | 16:75,269,377 | C/T | — | uncertain significance |
| rs16957559 | 16:75,269,378 | G/A | — | benign |
| rs201494574 | 16:75,269,441 | T/G | — | conflicting classifications of pathogenicity |
| rs61739233 | 16:75,269,448 | C/A | — | benign |
| rs746177979 | 16:75,269,514 | G/A | — | uncertain significance |
| rs145903338 | 16:75,269,564 | C/T | — | benign |
| rs144989936 | 16:75,269,577 | C/T | — | likely benign |
| rs753667550 | 16:75,269,581 | C/T | — | uncertain significance |
| rs61729594 | 16:75,269,582 | G/A | — | benign |
| rs2077096628 | 16:75,269,595 | T/A | — | uncertain significance |
| rs1229727285 | 16:75,269,598 | G/C | — | uncertain significance |
| rs199561794 | 16:75,269,619 | C/T | — | uncertain significance |
| rs140889740 | 16:75,269,620 | G/A | — | uncertain significance |
| rs150132600 | 16:75,269,635 | C/A | — | uncertain significance |
| rs776634985 | 16:75,269,646 | C/T | — | uncertain significance |
| rs377457096 | 16:75,269,649 | G/A | — | uncertain significance |
| rs375276812 | 16:75,269,667 | C/A | — | uncertain significance |
| rs769456547 | 16:75,269,703 | G/A | — | uncertain significance |
| rs532003825 | 16:75,269,727 | G/A | — | uncertain significance |
| rs112060276 | 16:75,269,729 | C/T | — | benign |
| rs61729593 | 16:75,269,730 | G/A | — | benign |
| rs949243824 | 16:75,269,761 | G/C | — | uncertain significance |
| rs2507383211 | 16:75,269,780 | A/G | — | likely benign |
| rs1483808706 | 16:75,269,797 | C/T | — | uncertain significance |
| rs149307086 | 16:75,269,800 | A/G | — | uncertain significance |
| rs1408199775 | 16:75,269,829 | C/T | — | uncertain significance |
| rs372024281 | 16:75,269,836 | G/C | — | uncertain significance |
| rs760196468 | 16:75,269,875 | C/T | — | uncertain significance |
| rs201347528 | 16:75,270,782 | C/T | — | uncertain significance |
| rs2507392563 | 16:75,270,797 | G/A | — | uncertain significance |
| rs759815861 | 16:75,270,809 | T/C | — | uncertain significance |
| rs765357684 | 16:75,270,817 | C/G | — | uncertain significance |
| rs758520470 | 16:75,270,823 | G/A | — | uncertain significance |
| rs748696177 | 16:75,270,848 | G/C | — | uncertain significance |
| rs774237238 | 16:75,270,854 | G/C | — | uncertain significance |
| rs150912813 | 16:75,270,885 | T/G | — | likely benign |
| rs1324963046 | 16:75,271,152 | C/G | — | uncertain significance |
| rs187469013 | 16:75,271,155 | G/C | — | uncertain significance |
| rs557098303 | 16:75,271,179 | C/T | — | uncertain significance |
| rs1465290702 | 16:75,271,202 | T/G | — | uncertain significance |
| rs750424218 | 16:75,271,214 | C/A | — | uncertain significance |
| rs747374409 | 16:75,271,226 | C/T | — | uncertain significance |
| rs376400260 | 16:75,271,227 | G/A | — | uncertain significance |
| rs750445876 | 16:75,276,384 | G/A | — | uncertain significance |
| rs2507430798 | 16:75,276,392 | C/G | — | uncertain significance |
| rs141303233 | 16:75,276,397 | T/C | — | uncertain significance |
| rs530070927 | 16:75,276,414 | G/A | — | uncertain significance |
| rs546950990 | 16:75,276,418 | G/A | — | uncertain significance |
| rs746710207 | 16:75,276,469 | T/A | — | uncertain significance |
| rs1442875929 | 16:75,276,480 | G/A | — | uncertain significance |
| rs199603918 | 16:75,276,522 | G/A | — | uncertain significance |
| rs538440673 | 16:75,276,543 | G/T | — | uncertain significance |
Showing 100 of 114 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.