RASAL3
RAS protein activator like 3
Summary
This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780650141 | 19:15,562,615 | G/T | — | uncertain significance |
| rs2513039331 | 19:15,562,698 | C/A | — | uncertain significance |
| rs1011750099 | 19:15,562,701 | C/T | — | uncertain significance |
| rs755504855 | 19:15,562,724 | C/G | — | uncertain significance |
| rs1369621624 | 19:15,563,470 | C/T | — | uncertain significance |
| rs1198940395 | 19:15,563,487 | T/C | — | uncertain significance |
| rs2513044255 | 19:15,563,538 | C/G | — | uncertain significance |
| rs774492792 | 19:15,563,957 | G/C | — | uncertain significance |
| rs1298691412 | 19:15,564,039 | G/A | — | uncertain significance |
| rs780006940 | 19:15,564,048 | G/C | — | uncertain significance |
| rs373762155 | 19:15,564,069 | C/A | — | uncertain significance |
| rs761344879 | 19:15,564,109 | G/C | — | uncertain significance |
| rs57208996 | 19:15,564,115 | G/T | missense variant | — |
| rs1040815750 | 19:15,564,121 | G/A | — | uncertain significance |
| rs374340432 | 19:15,564,183 | G/A | — | uncertain significance |
| rs766466907 | 19:15,564,258 | T/C | — | uncertain significance |
| rs1417420561 | 19:15,564,970 | C/T | — | likely benign |
| rs1438524785 | 19:15,564,981 | G/A | — | uncertain significance |
| rs1003206871 | 19:15,564,994 | G/A | — | uncertain significance |
| rs757275237 | 19:15,565,009 | C/A | — | uncertain significance |
| rs780451771 | 19:15,565,032 | A/G | — | uncertain significance |
| rs566779173 | 19:15,565,254 | C/T | — | uncertain significance |
| rs2513052077 | 19:15,565,255 | C/T | — | uncertain significance |
| rs761634798 | 19:15,565,306 | G/T | — | uncertain significance |
| rs200240643 | 19:15,565,470 | G/A | — | likely benign |
| rs890076731 | 19:15,565,475 | G/A | — | uncertain significance |
| rs2513053453 | 19:15,565,563 | G/T | — | uncertain significance |
| rs773624511 | 19:15,565,655 | A/G | — | uncertain significance |
| rs1459660017 | 19:15,565,679 | C/T | — | uncertain significance |
| rs202210695 | 19:15,566,949 | C/T | — | uncertain significance |
| rs747530731 | 19:15,566,951 | C/A | — | uncertain significance |
| rs776931516 | 19:15,566,960 | C/T | — | uncertain significance |
| rs199543113 | 19:15,567,044 | C/T | — | uncertain significance |
| rs2513058544 | 19:15,567,051 | C/T | — | uncertain significance |
| rs142945276 | 19:15,568,123 | G/A | missense variant | — |
| rs756989630 | 19:15,568,200 | C/T | — | uncertain significance |
| rs749240512 | 19:15,568,266 | C/T | — | uncertain significance |
| rs999556364 | 19:15,568,312 | C/G | — | uncertain significance |
| rs1970363134 | 19:15,568,325 | C/G | — | uncertain significance |
| rs748306057 | 19:15,568,354 | G/C | — | uncertain significance |
| rs866848885 | 19:15,568,365 | A/T | — | uncertain significance |
| rs2513066150 | 19:15,568,408 | C/T | — | uncertain significance |
| rs1970372494 | 19:15,568,543 | A/C | — | uncertain significance |
| rs144950120 | 19:15,568,692 | C/A | intron variant | — |
| rs753396666 | 19:15,569,180 | G/A | — | uncertain significance |
| rs372081880 | 19:15,569,225 | C/T | — | uncertain significance |
| rs769063742 | 19:15,569,227 | G/A | — | uncertain significance |
| rs58123634 | 19:15,569,378 | G/C | — | benign |
| rs2513072172 | 19:15,569,443 | C/T | — | uncertain significance |
| rs200139548 | 19:15,571,021 | G/A | — | uncertain significance |
| rs767753533 | 19:15,571,881 | T/C | — | uncertain significance |
| rs368197037 | 19:15,571,900 | C/T | — | uncertain significance |
| rs2513081791 | 19:15,571,911 | T/C | — | uncertain significance |
| rs369461607 | 19:15,572,089 | C/T | — | likely benign |
| rs751182066 | 19:15,572,091 | C/T | — | uncertain significance |
| rs755654775 | 19:15,572,353 | C/T | — | uncertain significance |
| rs779997139 | 19:15,572,356 | T/G | — | uncertain significance |
| rs199767735 | 19:15,575,069 | G/T | — | uncertain significance |
| rs753960572 | 19:15,575,084 | C/G | — | uncertain significance |
| rs1411510013 | 19:15,575,100 | G/A | — | uncertain significance |
| rs2513094351 | 19:15,575,139 | G/C | — | uncertain significance |
| rs76267899 | 19:15,575,174 | G/C | — | uncertain significance |
| rs919791 | 19:15,576,817 | G/A | upstream gene variant | — |
| rs9710423 | 19:15,577,067 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.