REPS2
RALBP1 associated Eps domain containing 2
Summary
The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2060437289 | X:16,964,998 | C/T | — | uncertain significance |
| rs1047952328 | X:16,965,023 | A/G | — | likely benign |
| rs867415979 | X:16,965,025 | C/T | — | uncertain significance |
| rs942128328 | X:16,965,094 | G/A | — | uncertain significance |
| rs2060441927 | X:16,965,114 | C/G | — | uncertain significance |
| rs996210768 | X:16,965,144 | G/C | — | uncertain significance |
| rs1170776719 | X:16,965,145 | G/C | — | uncertain significance |
| rs747915100 | X:16,965,163 | C/T | — | likely benign |
| rs891072078 | X:16,965,184 | C/G | — | uncertain significance |
| rs763632604 | X:16,965,201 | G/A | — | likely benign |
| rs2518555847 | X:16,965,253 | A/G | — | uncertain significance |
| rs5924566 | X:16,978,254 | A/C | — | — |
| rs772735900 | X:17,024,446 | C/T | — | uncertain significance |
| rs1339157602 | X:17,040,318 | A/G | — | uncertain significance |
| rs2518861610 | X:17,040,372 | G/C | — | uncertain significance |
| rs777305301 | X:17,040,377 | G/A | — | uncertain significance |
| rs373958763 | X:17,043,234 | C/T | — | uncertain significance |
| rs144810333 | X:17,047,675 | G/T | — | uncertain significance |
| rs753183113 | X:17,047,680 | G/A | — | likely benign |
| rs370804178 | X:17,047,684 | G/A | — | uncertain significance |
| rs149335477 | X:17,047,697 | C/T | — | uncertain significance |
| rs768733696 | X:17,047,709 | G/A | — | uncertain significance |
| rs6629201 | X:17,068,163 | C/T | intron variant | — |
| rs770109996 | X:17,080,611 | T/C | — | uncertain significance |
| rs147267823 | X:17,080,618 | C/T | — | uncertain significance |
| rs181282465 | X:17,086,548 | T/C | — | likely benign |
| rs147520826 | X:17,088,077 | A/G | — | uncertain significance |
| rs754985513 | X:17,152,013 | A/G | — | uncertain significance |
| rs755798856 | X:17,153,405 | C/T | — | uncertain significance |
| rs868000265 | X:17,153,469 | C/T | — | uncertain significance |
| rs1289562701 | X:17,153,471 | A/G | — | uncertain significance |
| rs770010053 | X:17,153,496 | C/T | — | likely benign |
| rs2519396009 | X:17,156,990 | A/C | — | uncertain significance |
| rs2519396028 | X:17,156,992 | C/T | — | uncertain significance |
| rs140955532 | X:17,157,027 | T/C | — | benign |
| rs1397691843 | X:17,165,589 | G/A | — | likely benign |
| rs187573797 | X:17,205,500 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.