PRCC
proline rich mitotic checkpoint control factor
Summary
This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs975058208 | 1:156,737,624 | C/G | — | uncertain significance |
| rs200228818 | 1:156,737,660 | C/T | — | uncertain significance |
| rs1651473409 | 1:156,737,786 | C/A | — | uncertain significance |
| rs2102748412 | 1:156,738,020 | C/G | — | uncertain significance |
| rs148500046 | 1:156,752,559 | A/G | intron variant | — |
| rs535659896 | 1:156,753,745 | T/C | — | — |
| rs150156863 | 1:156,755,537 | C/T | intron variant | — |
| rs573391425 | 1:156,755,898 | C/T | — | — |
| rs151117901 | 1:156,756,485 | C/G | — | uncertain significance |
| rs527365072 | 1:156,756,506 | C/A | — | uncertain significance |
| rs749566087 | 1:156,756,509 | C/T | — | uncertain significance |
| rs1366943395 | 1:156,756,523 | G/C | — | uncertain significance |
| rs767407818 | 1:156,756,558 | G/C | — | uncertain significance |
| rs765147008 | 1:156,756,602 | C/T | — | uncertain significance |
| rs770347241 | 1:156,756,605 | C/T | — | uncertain significance |
| rs547571520 | 1:156,756,703 | G/A | — | uncertain significance |
| rs2525289860 | 1:156,756,718 | C/T | — | uncertain significance |
| rs141772031 | 1:156,756,739 | C/G | — | uncertain significance |
| rs1294198270 | 1:156,756,791 | C/T | — | other |
| rs768338970 | 1:156,756,881 | C/G | — | uncertain significance |
| rs201067535 | 1:156,756,905 | A/G | — | uncertain significance |
| rs17850664 | 1:156,761,540 | A/C | — | uncertain significance |
| rs141586462 | 1:156,763,619 | T/A | intron variant | — |
| rs761304173 | 1:156,764,536 | G/T | — | uncertain significance |
| rs1373475388 | 1:156,764,583 | A/G | — | uncertain significance |
| rs139624371 | 1:156,767,986 | A/G | intron variant | — |
| rs755126737 | 1:156,770,176 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.