RAB3IL1
RAB3A interacting protein like 1
Summary
This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768169036 | 11:61,665,763 | G/A | — | uncertain significance |
| rs776597901 | 11:61,665,789 | C/T | — | uncertain significance |
| rs190197025 | 11:61,666,543 | T/C | regulatory region variant | — |
| rs138510260 | 11:61,669,299 | C/T | intron variant | — |
| rs772320713 | 11:61,669,922 | G/A | — | uncertain significance |
| rs370497170 | 11:61,669,964 | G/A | — | uncertain significance |
| rs148671281 | 11:61,669,967 | G/A | — | uncertain significance |
| rs1275621288 | 11:61,669,978 | C/T | — | uncertain significance |
| rs174471 | 11:61,670,037 | C/T | intron variant | — |
| rs548685284 | 11:61,672,063 | G/A | — | uncertain significance |
| rs141437705 | 11:61,672,069 | G/A | — | uncertain significance |
| rs568300297 | 11:61,672,109 | C/T | — | uncertain significance |
| rs2541212354 | 11:61,672,238 | G/C | — | uncertain significance |
| rs76931588 | 11:61,672,629 | G/T | intron variant | — |
| rs150107094 | 11:61,673,981 | G/C | — | uncertain significance |
| rs774752186 | 11:61,673,991 | C/A | — | uncertain significance |
| rs758989930 | 11:61,674,011 | G/A | — | uncertain significance |
| rs74422697 | 11:61,674,024 | G/A | — | uncertain significance |
| rs375259205 | 11:61,674,119 | G/A | — | uncertain significance |
| rs1213454360 | 11:61,674,135 | C/T | — | uncertain significance |
| rs370676123 | 11:61,674,872 | C/T | — | uncertain significance |
| rs372993155 | 11:61,674,902 | G/A | — | uncertain significance |
| rs2541230209 | 11:61,675,066 | G/C | — | uncertain significance |
| rs760797379 | 11:61,675,117 | C/A | — | uncertain significance |
| rs201761739 | 11:61,675,536 | C/G | — | uncertain significance |
| rs774849633 | 11:61,675,623 | G/A | — | uncertain significance |
| rs374088156 | 11:61,675,662 | G/A | — | uncertain significance |
| rs374941960 | 11:61,675,671 | A/G | — | likely benign |
| rs666870 | 11:61,677,479 | G/A | intron variant | — |
| rs174479 | 11:61,678,754 | C/G | intron variant | — |
| rs779552279 | 11:61,679,092 | C/T | — | — |
| rs147751425 | 11:61,680,130 | G/A | intron variant | — |
| rs557986619 | 11:61,683,675 | G/A | — | — |
| rs188423819 | 11:61,686,144 | G/A | upstream gene variant | — |
| rs11605545 | 11:61,690,895 | A/C | regulatory region variant | — |
| rs569655253 | 11:61,692,300 | C/T | — | — |
| rs185705309 | 11:61,692,483 | C/T | upstream gene variant | — |
| rs142138727 | 11:61,694,909 | G/T | — | — |
| rs2521565 | 11:61,696,675 | A/G | intergenic variant | — |
| rs12787928 | 11:61,697,078 | A/T | intergenic variant | — |
| rs2736604 | 11:61,699,827 | C/A | intergenic variant | — |
| rs12808608 | 11:61,700,754 | C/T | upstream gene variant | — |
| rs2521568 | 11:61,700,933 | G/C | upstream gene variant | — |
| rs144564439 | 11:61,701,041 | G/C | upstream gene variant | — |
| rs12799580 | 11:61,702,907 | A/G | — | — |
| rs2736598 | 11:61,706,135 | T/C | downstream gene variant | — |
| rs185027945 | 11:61,706,477 | A/G | downstream gene variant | — |
| rs2727268 | 11:61,707,645 | A/T | — | — |
| rs2521572 | 11:61,711,475 | T/G | intergenic variant | — |
| rs2727261 | 11:61,712,131 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.