RNF6
ring finger protein 6
Summary
The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17511627 | 13:26,724,328 | A/C | intron variant | — |
| rs34238147 | 13:26,776,255 | G/A | intron variant | — |
| rs9581587 | 13:26,777,083 | A/C | intron variant | — |
| rs9581588 | 13:26,777,299 | C/G | intron variant | — |
| rs76154673 | 13:26,777,488 | T/C | intron variant | — |
| rs10507349 | 13:26,781,528 | G/A | intron variant | — |
| rs12874929 | 13:26,781,607 | A/G | intron variant | — |
| rs919116514 | 13:26,787,978 | T/G | — | uncertain significance |
| rs1869551724 | 13:26,788,260 | G/A | — | uncertain significance |
| rs768796968 | 13:26,788,263 | G/C | — | uncertain significance |
| rs138379662 | 13:26,788,304 | C/T | — | benign |
| rs371223238 | 13:26,788,320 | C/T | — | uncertain significance |
| rs751113959 | 13:26,788,337 | C/T | — | uncertain significance |
| rs544372285 | 13:26,788,355 | G/T | — | uncertain significance |
| rs150137875 | 13:26,788,394 | G/T | — | likely benign |
| rs756325477 | 13:26,788,517 | T/C | — | uncertain significance |
| rs758763352 | 13:26,788,644 | T/C | — | uncertain significance |
| rs2542216474 | 13:26,788,658 | C/T | — | uncertain significance |
| rs1321583362 | 13:26,788,691 | C/T | — | uncertain significance |
| rs142805604 | 13:26,788,778 | C/T | — | uncertain significance |
| rs1165969274 | 13:26,788,880 | T/C | — | uncertain significance |
| rs146223613 | 13:26,788,930 | T/C | — | benign |
| rs535981526 | 13:26,788,998 | C/G | — | uncertain significance |
| rs1183285438 | 13:26,789,057 | G/C | — | uncertain significance |
| rs927082566 | 13:26,789,060 | C/T | — | uncertain significance |
| rs200534895 | 13:26,789,062 | A/C | — | uncertain significance |
| rs148693073 | 13:26,789,096 | T/C | — | likely benign |
| rs774183476 | 13:26,789,154 | C/T | — | uncertain significance |
| rs773110541 | 13:26,789,199 | G/A | — | uncertain significance |
| rs774282689 | 13:26,789,264 | C/T | — | likely benign |
| rs121434524 | 13:26,789,288 | C/T | missense variant | pathogenic |
| rs373580772 | 13:26,789,289 | C/T | — | uncertain significance |
| rs121434523 | 13:26,789,295 | C/T | missense variant | pathogenic |
| rs2542225884 | 13:26,789,321 | C/G | — | uncertain significance |
| rs7990167 | 13:26,789,411 | A/G | — | uncertain significance |
| rs1312407146 | 13:26,789,427 | T/C | — | uncertain significance |
| rs149013479 | 13:26,789,451 | T/C | — | likely benign |
| rs1052458500 | 13:26,789,577 | G/A | — | uncertain significance |
| rs371597920 | 13:26,789,667 | G/A | — | uncertain significance |
| rs121434522 | 13:26,789,714 | C/T | missense variant | pathogenic |
| rs139551586 | 13:26,792,688 | T/C | — | benign |
| rs149715342 | 13:26,792,702 | C/T | — | uncertain significance |
| rs180817551 | 13:26,793,588 | T/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.