RBPMS
RNA binding protein, mRNA processing factor
Summary
This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1396646389 | 8:30,242,645 | C/T | — | uncertain significance |
| rs2979481 | 8:30,262,786 | T/A | — | — |
| rs2979483 | 8:30,265,887 | G/C | — | — |
| rs6468341 | 8:30,279,355 | T/C | intron variant | — |
| rs6468342 | 8:30,279,453 | A/T | — | — |
| rs2915607 | 8:30,279,916 | T/A | — | — |
| rs2979469 | 8:30,285,091 | G/C | intron variant | — |
| rs2979472 | 8:30,291,704 | G/A | — | — |
| rs4545054 | 8:30,302,465 | T/C | intron variant | — |
| rs10954994 | 8:30,306,419 | C/G | — | — |
| rs11988541 | 8:30,334,273 | G/A | regulatory region variant | — |
| rs62505144 | 8:30,355,038 | G/A | — | — |
| rs6982511 | 8:30,355,513 | G/T | intron variant | — |
| rs12541111 | 8:30,360,926 | G/C | — | — |
| rs2487070210 | 8:30,361,815 | G/A | — | uncertain significance |
| rs1206877825 | 8:30,361,882 | A/G | — | uncertain significance |
| rs6997010 | 8:30,365,489 | T/A | intron variant | — |
| rs13258503 | 8:30,374,800 | C/G | intron variant | — |
| rs2979498 | 8:30,375,251 | T/A | regulatory region variant | — |
| rs2979506 | 8:30,387,590 | G/A | intron variant | — |
| rs2487527551 | 8:30,402,044 | G/T | — | uncertain significance |
| rs953098266 | 8:30,402,071 | T/C | — | uncertain significance |
| rs1450971728 | 8:30,402,080 | C/T | — | uncertain significance |
| rs367843710 | 8:30,402,106 | C/G | — | uncertain significance |
| rs760167457 | 8:30,402,109 | G/A | — | uncertain significance |
| rs374317677 | 8:30,402,250 | A/C | — | likely benign |
| rs945293649 | 8:30,404,914 | G/A | — | uncertain significance |
| rs201977135 | 8:30,404,933 | C/T | — | uncertain significance |
| rs143076913 | 8:30,407,060 | C/G | — | uncertain significance |
| rs113658105 | 8:30,411,951 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.