PTBP3
polypyrimidine tract binding protein 3
Summary
The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs771735559 | 9:114,986,244 | G/A | — | uncertain significance |
| rs377449213 | 9:114,989,781 | T/C | — | uncertain significance |
| rs1320265766 | 9:114,990,677 | G/A | — | uncertain significance |
| rs201451925 | 9:114,994,396 | T/A | — | uncertain significance |
| rs776698280 | 9:114,994,416 | C/T | — | uncertain significance |
| rs142428067 | 9:114,997,168 | C/G | — | uncertain significance |
| rs151297125 | 9:115,013,224 | T/C | — | uncertain significance |
| rs1836092670 | 9:115,013,317 | T/C | — | uncertain significance |
| rs2539039706 | 9:115,013,371 | G/T | — | uncertain significance |
| rs760403242 | 9:115,024,791 | A/G | — | uncertain significance |
| rs2539109464 | 9:115,024,803 | T/C | — | uncertain significance |
| rs771097183 | 9:115,024,806 | T/C | — | uncertain significance |
| rs369648690 | 9:115,024,828 | C/T | — | uncertain significance |
| rs564735442 | 9:115,026,385 | T/C | — | — |
| rs951516692 | 9:115,030,332 | T/G | — | uncertain significance |
| rs1315126995 | 9:115,030,385 | A/G | — | uncertain significance |
| rs746425976 | 9:115,030,399 | C/T | — | uncertain significance |
| rs1489892574 | 9:115,030,430 | T/C | — | uncertain significance |
| rs556943992 | 9:115,030,442 | C/T | — | uncertain significance |
| rs2539203999 | 9:115,038,192 | C/T | — | uncertain significance |
| rs2539204469 | 9:115,038,233 | A/C | — | uncertain significance |
| rs1310251342 | 9:115,038,234 | C/T | — | uncertain significance |
| rs771667055 | 9:115,038,237 | G/A | — | uncertain significance |
| rs752068869 | 9:115,038,263 | C/T | — | uncertain significance |
| rs578110346 | 9:115,055,399 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.