ACVR1B
activin A receptor type 1B
Summary
This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373237304 | 12:52,345,538 | C/T | — | uncertain significance |
| rs750134234 | 12:52,345,562 | C/A | — | uncertain significance |
| rs1941300785 | 12:52,345,573 | C/T | — | uncertain significance |
| rs2540193580 | 12:52,345,591 | G/A | — | uncertain significance |
| rs7962469 | 12:52,348,259 | G/A | — | benign |
| rs11610143 | 12:52,349,071 | C/A | — | — |
| rs12809597 | 12:52,356,323 | T/G | intron variant | — |
| rs1471674323 | 12:52,369,270 | G/A | — | uncertain significance |
| rs751694278 | 12:52,370,200 | A/C | — | uncertain significance |
| rs997051385 | 12:52,376,484 | C/T | — | uncertain significance |
| rs2540262387 | 12:52,376,578 | T/G | — | uncertain significance |
| rs2540266386 | 12:52,377,788 | G/C | — | uncertain significance |
| rs2120691810 | 12:52,377,883 | G/A | — | pathogenic |
| rs1259947665 | 12:52,377,908 | A/G | — | uncertain significance |
| rs762723557 | 12:52,380,609 | G/A | — | uncertain significance |
| rs387906389 | 12:52,380,624 | — | — | pathogenic |
| rs1942090606 | 12:52,380,706 | C/A | — | uncertain significance |
| rs1361074077 | 12:52,380,708 | C/G | — | uncertain significance |
| rs2252518 | 12:52,381,026 | C/T | — | — |
| rs368988921 | 12:52,385,749 | A/G | — | uncertain significance |
| rs76067104 | 12:52,387,858 | C/T | — | benign |
| rs2854464 | 12:52,388,891 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.