SH3BP5
SH3 domain binding protein 5
Summary
Enables guanyl-nucleotide exchange factor activity and protein kinase inhibitor activity. Acts upstream of or within intracellular signal transduction. Located in cytoplasmic vesicle membrane and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1318937 | 3:15,295,364 | A/G | downstream gene variant | — |
| rs2470213421 | 3:15,297,636 | C/T | — | uncertain significance |
| rs199815140 | 3:15,297,681 | A/C | — | uncertain significance |
| rs151156327 | 3:15,297,753 | C/G | — | uncertain significance |
| rs34419005 | 3:15,297,760 | T/G | — | uncertain significance |
| rs777456775 | 3:15,297,780 | G/C | — | uncertain significance |
| rs116552208 | 3:15,297,813 | A/G | — | benign |
| rs2470218652 | 3:15,298,536 | C/T | — | uncertain significance |
| rs756626022 | 3:15,298,554 | T/C | — | uncertain significance |
| rs201659262 | 3:15,298,588 | T/C | — | uncertain significance |
| rs774575202 | 3:15,300,532 | A/C | — | uncertain significance |
| rs150358821 | 3:15,300,539 | C/T | — | uncertain significance |
| rs1438115970 | 3:15,301,293 | T/G | — | uncertain significance |
| rs930272501 | 3:15,303,674 | G/C | — | uncertain significance |
| rs745739545 | 3:15,303,703 | G/C | — | uncertain significance |
| rs763726436 | 3:15,303,714 | C/T | — | uncertain significance |
| rs755005035 | 3:15,303,729 | T/C | — | uncertain significance |
| rs1575280851 | 3:15,303,756 | A/G | — | uncertain significance |
| rs774036491 | 3:15,311,243 | T/G | — | uncertain significance |
| rs144294550 | 3:15,311,270 | G/A | — | uncertain significance |
| rs1543984 | 3:15,324,841 | C/T | — | — |
| rs774480487 | 3:15,345,621 | C/T | — | uncertain significance |
| rs982491980 | 3:15,345,626 | C/T | — | uncertain significance |
| rs761745285 | 3:15,345,678 | C/T | — | uncertain significance |
| rs751192427 | 3:15,345,731 | C/T | — | uncertain significance |
| rs372882878 | 3:15,372,021 | G/A | — | uncertain significance |
| rs2470432888 | 3:15,373,857 | G/A | — | uncertain significance |
| rs372470022 | 3:15,373,875 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.