SH3BP1
SH3 domain binding protein 1
Summary
This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues. [provided by RefSeq, Mar 2017]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2518068882 | 22:38,035,837 | A/T | — | uncertain significance |
| rs767839845 | 22:38,037,146 | G/A | — | uncertain significance |
| rs201253777 | 22:38,037,158 | G/A | — | uncertain significance |
| rs114686391 | 22:38,037,374 | T/C | — | benign |
| rs913082754 | 22:38,037,391 | G/A | — | uncertain significance |
| rs74643192 | 22:38,037,401 | G/A | — | benign |
| rs1225562781 | 22:38,037,432 | C/T | — | uncertain significance |
| rs766699361 | 22:38,037,453 | G/T | — | uncertain significance |
| rs372022824 | 22:38,037,465 | G/C | — | uncertain significance |
| rs1932595639 | 22:38,037,478 | A/G | — | uncertain significance |
| rs1308020239 | 22:38,037,480 | C/T | — | uncertain significance |
| rs1365525277 | 22:38,038,979 | G/A | — | uncertain significance |
| rs748361378 | 22:38,038,993 | C/G | — | uncertain significance |
| rs915111725 | 22:38,039,704 | C/T | — | uncertain significance |
| rs371346678 | 22:38,040,931 | G/T | — | uncertain significance |
| rs749525835 | 22:38,041,389 | A/G | — | likely benign |
| rs2518082947 | 22:38,041,390 | C/T | — | uncertain significance |
| rs538215145 | 22:38,041,443 | G/A | — | uncertain significance |
| rs538357864 | 22:38,041,453 | G/A | — | uncertain significance |
| rs1030018800 | 22:38,041,473 | G/A | — | uncertain significance |
| rs777822009 | 22:38,041,482 | G/A | — | uncertain significance |
| rs144888585 | 22:38,042,886 | C/T | — | uncertain significance |
| rs763783835 | 22:38,043,464 | G/C | — | uncertain significance |
| rs751290314 | 22:38,043,468 | G/A | — | uncertain significance |
| rs745344570 | 22:38,043,506 | C/G | — | uncertain significance |
| rs755591073 | 22:38,043,507 | C/G | — | uncertain significance |
| rs369646982 | 22:38,043,511 | G/A | — | likely benign |
| rs146664648 | 22:38,046,173 | T/G | — | uncertain significance |
| rs764655947 | 22:38,046,188 | T/C | — | uncertain significance |
| rs73422755 | 22:38,046,235 | G/T | — | uncertain significance |
| rs762602517 | 22:38,046,242 | C/G | — | uncertain significance |
| rs141462749 | 22:38,046,644 | G/A | — | uncertain significance |
| rs775772219 | 22:38,046,645 | T/C | — | uncertain significance |
| rs9610825 | 22:38,048,755 | C/T | intron variant | — |
| rs760889949 | 22:38,049,777 | C/T | — | likely benign |
| rs771125702 | 22:38,049,793 | T/C | — | uncertain significance |
| rs756817806 | 22:38,049,837 | T/A | — | uncertain significance |
| rs769894481 | 22:38,051,285 | G/A | — | uncertain significance |
| rs768349095 | 22:38,051,288 | C/A | — | uncertain significance |
| rs765912609 | 22:38,051,300 | G/A | — | uncertain significance |
| rs757668214 | 22:38,051,315 | C/G | — | uncertain significance |
| rs781615939 | 22:38,051,317 | C/T | — | uncertain significance |
| rs2518103680 | 22:38,051,327 | C/T | — | uncertain significance |
| rs1402334535 | 22:38,051,351 | C/A | — | uncertain significance |
| rs113675586 | 22:38,051,361 | G/C | — | uncertain significance |
| rs1294557301 | 22:38,051,479 | C/T | — | uncertain significance |
| rs775065930 | 22:38,051,480 | G/A | — | uncertain significance |
| rs762343713 | 22:38,051,482 | C/T | — | uncertain significance |
| rs768016525 | 22:38,051,483 | G/A | — | uncertain significance |
| rs750758422 | 22:38,051,486 | A/G | — | uncertain significance |
| rs780784724 | 22:38,051,650 | C/T | — | uncertain significance |
| rs377417290 | 22:38,051,668 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.