RBMS1
RNA binding motif single stranded interacting protein 1
Summary
This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs775657445 | 2:161,132,185 | T/C | — | uncertain significance |
| rs545966645 | 2:161,133,864 | C/T | — | uncertain significance |
| rs770669508 | 2:161,133,881 | G/A | — | uncertain significance |
| rs927210621 | 2:161,135,064 | C/T | — | uncertain significance |
| rs1414684573 | 2:161,135,115 | T/C | — | uncertain significance |
| rs143069971 | 2:161,135,148 | T/C | — | uncertain significance |
| rs780905081 | 2:161,137,871 | T/C | — | uncertain significance |
| rs771701625 | 2:161,141,309 | C/A | — | uncertain significance |
| rs2469529211 | 2:161,143,550 | T/G | — | uncertain significance |
| rs766708130 | 2:161,143,595 | G/T | — | uncertain significance |
| rs6432613 | 2:161,145,612 | A/T | — | — |
| rs2357772 | 2:161,147,820 | T/A | intron variant | — |
| rs143688769 | 2:161,148,666 | G/C | intron variant | — |
| rs2469560420 | 2:161,157,224 | T/C | — | uncertain significance |
| rs376797676 | 2:161,159,836 | C/T | — | likely benign |
| rs2469567655 | 2:161,159,868 | C/T | — | uncertain significance |
| rs10929977 | 2:161,169,828 | C/G | intron variant | — |
| rs7593730 | 2:161,171,454 | T/C | intron variant | — |
| rs370929283 | 2:161,174,690 | G/T | — | uncertain significance |
| rs6718526 | 2:161,214,175 | T/A | — | — |
| rs759673460 | 2:161,223,877 | A/T | — | uncertain significance |
| rs760937819 | 2:161,223,884 | G/A | — | uncertain significance |
| rs201958855 | 2:161,234,659 | A/G | — | — |
| rs187739297 | 2:161,245,831 | T/C | intron variant | — |
| rs76095723 | 2:161,272,370 | T/A | intron variant | — |
| rs6746841 | 2:161,280,888 | G/A | — | — |
| rs6432615 | 2:161,281,524 | C/G | — | — |
| rs62177359 | 2:161,290,337 | A/G | — | — |
| rs10185744 | 2:161,296,249 | A/G | intron variant | — |
| rs547287714 | 2:161,296,466 | T/C | — | — |
| rs72976737 | 2:161,298,343 | G/A | intron variant | — |
| rs7424278 | 2:161,299,702 | G/A | intron variant | — |
| rs62179061 | 2:161,300,974 | T/C | intron variant | — |
| rs113678689 | 2:161,306,828 | G/T | — | — |
| rs10172311 | 2:161,329,365 | C/T | regulatory region variant | — |
| rs10208158 | 2:161,331,081 | C/T | regulatory region variant | — |
| rs4664330 | 2:161,333,128 | G/T | — | — |
| rs6432620 | 2:161,337,882 | G/A | — | — |
| rs7419612 | 2:161,340,500 | C/A | intron variant | — |
| rs12053386 | 2:161,350,906 | T/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.