PCBP3
poly(rC) binding protein 3
Summary
This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this gene lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9977301 | 21:47,062,613 | C/T | regulatory region variant | — |
| rs4819143 | 21:47,124,178 | G/A | intron variant | — |
| rs143549714 | 21:47,158,921 | T/C | — | — |
| rs8127571 | 21:47,165,429 | A/T | — | — |
| rs113211675 | 21:47,316,126 | C/T | — | benign |
| rs2523791237 | 21:47,316,269 | A/C | — | uncertain significance |
| rs1476849226 | 21:47,321,004 | A/G | — | uncertain significance |
| rs7277632 | 21:47,327,542 | A/G | intron variant | — |
| rs2277812 | 21:47,329,352 | C/T | — | benign |
| rs371045522 | 21:47,330,866 | G/A | — | likely benign |
| rs982445407 | 21:47,330,871 | G/A | — | uncertain significance |
| rs761679448 | 21:47,330,915 | G/A | — | uncertain significance |
| rs2524771845 | 21:47,333,871 | C/T | — | uncertain significance |
| rs199852523 | 21:47,333,895 | C/T | — | uncertain significance |
| rs440207 | 21:47,334,414 | C/T | — | benign |
| rs1736426 | 21:47,338,291 | G/T | — | — |
| rs148366893 | 21:47,350,707 | G/A | — | likely benign |
| rs747985468 | 21:47,350,718 | A/G | — | uncertain significance |
| rs747312227 | 21:47,350,726 | G/A | — | uncertain significance |
| rs756981071 | 21:47,355,174 | C/A | — | uncertain significance |
| rs769999595 | 21:47,355,181 | C/T | — | uncertain significance |
| rs61736689 | 21:47,361,590 | G/A | — | benign |
| rs774570063 | 21:47,361,603 | G/A | — | uncertain significance |
| rs202074753 | 21:47,361,608 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.