RBM5
RNA binding motif protein 5
Summary
This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375112480 | 3:50,125,108 | A/C | — | — |
| rs2013208 | 3:50,129,399 | C/A | — | — |
| rs771796030 | 3:50,129,618 | T/C | — | uncertain significance |
| rs529469481 | 3:50,131,159 | C/T | — | uncertain significance |
| rs201956265 | 3:50,131,186 | G/A | — | likely pathogenic |
| rs62263597 | 3:50,131,691 | G/A | intron variant | — |
| rs546308455 | 3:50,137,438 | C/A | — | uncertain significance |
| rs777391323 | 3:50,143,140 | A/G | — | uncertain significance |
| rs779368953 | 3:50,144,272 | G/A | — | uncertain significance |
| rs140191137 | 3:50,147,036 | G/T | — | uncertain significance |
| rs147593355 | 3:50,147,060 | C/T | — | uncertain significance |
| rs138305114 | 3:50,147,120 | C/T | — | uncertain significance |
| rs1261846897 | 3:50,147,891 | A/G | — | uncertain significance |
| rs762235943 | 3:50,148,146 | A/C | — | uncertain significance |
| rs2301166 | 3:50,148,305 | C/G | intron variant | — |
| rs142022998 | 3:50,150,894 | A/G | — | uncertain significance |
| rs1217712730 | 3:50,150,921 | C/T | — | uncertain significance |
| rs150564071 | 3:50,151,623 | C/T | — | uncertain significance |
| rs1220947096 | 3:50,154,590 | T/A | — | uncertain significance |
| rs777357929 | 3:50,154,781 | G/A | — | uncertain significance |
| rs2624825 | 3:50,154,989 | G/T | coding sequence variant | — |
| rs768916982 | 3:50,155,773 | C/T | — | uncertain significance |
| rs1172529257 | 3:50,155,798 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.