ACVR2B
activin A receptor type 2B
Summary
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 (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]
Known Variants322 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1468077 | 3:38,494,859 | T/A | — | — |
| rs777322779 | 3:38,495,793 | C/T | — | uncertain significance |
| rs1559642966 | 3:38,495,814 | A/G | — | uncertain significance |
| rs890359144 | 3:38,495,819 | G/C | — | likely benign |
| rs1246364065 | 3:38,495,822 | G/A | — | likely benign |
| rs2125710304 | 3:38,495,823 | C/T | — | uncertain significance |
| rs1709503298 | 3:38,495,833 | C/T | — | uncertain significance |
| rs1470129412 | 3:38,495,835 | C/T | — | uncertain significance |
| rs1194617358 | 3:38,495,837 | C/A | — | uncertain significance |
| rs1409534047 | 3:38,495,858 | G/A | — | uncertain significance |
| rs1353190405 | 3:38,495,873 | C/T | — | likely benign |
| rs3749386 | 3:38,496,065 | C/T | — | benign |
| rs36070911 | 3:38,498,439 | A/G | upstream gene variant | — |
| rs2268753 | 3:38,500,189 | C/T | upstream gene variant | — |
| rs2268757 | 3:38,505,853 | C/T | intron variant | — |
| rs2276541 | 3:38,512,779 | G/T | — | — |
| rs2268762 | 3:38,516,075 | A/G | intron variant | — |
| rs1409388869 | 3:38,518,786 | C/T | — | uncertain significance |
| rs776754289 | 3:38,518,787 | G/A | — | uncertain significance |
| rs759328980 | 3:38,518,824 | C/T | — | likely benign |
| rs371756878 | 3:38,518,825 | G/A | — | uncertain significance |
| rs767336154 | 3:38,518,837 | C/T | — | likely benign |
| rs121434437 | 3:38,518,844 | G/A | missense variant | likely benign |
| rs752059653 | 3:38,518,868 | G/T | — | uncertain significance |
| rs201686292 | 3:38,518,872 | C/T | — | benign |
| rs371445433 | 3:38,518,873 | G/A | — | uncertain significance |
| rs1575587194 | 3:38,518,902 | C/T | — | likely benign |
| rs145456109 | 3:38,518,935 | C/T | — | likely benign |
| rs781394045 | 3:38,518,968 | C/T | — | likely benign |
| rs2471255810 | 3:38,518,986 | G/C | — | uncertain significance |
| rs147683346 | 3:38,518,992 | C/G | — | likely benign |
| rs200401350 | 3:38,518,995 | G/C | — | likely benign |
| rs2471255823 | 3:38,518,997 | C/T | — | likely benign |
| rs971663776 | 3:38,519,344 | G/A | — | likely benign |
| rs886058385 | 3:38,519,374 | G/C | — | uncertain significance |
| rs2070489 | 3:38,519,424 | A/G | — | benign |
| rs2125722719 | 3:38,519,434 | C/T | — | uncertain significance |
| rs1709941256 | 3:38,519,442 | A/G | — | likely benign |
| rs760979000 | 3:38,519,456 | C/T | — | uncertain significance |
| rs551737290 | 3:38,519,457 | G/A | — | likely benign |
| rs377585519 | 3:38,519,475 | G/A | — | benign |
| rs370286614 | 3:38,519,481 | G/T | — | likely benign |
| rs374269276 | 3:38,519,623 | G/C | — | likely benign |
| rs368433716 | 3:38,519,629 | C/T | — | uncertain significance |
| rs749007843 | 3:38,519,644 | C/G | — | uncertain significance |
| rs2125722964 | 3:38,519,667 | C/T | — | uncertain significance |
| rs199622012 | 3:38,519,671 | C/T | — | uncertain significance |
| rs2471257527 | 3:38,519,681 | C/T | — | likely benign |
| rs555828910 | 3:38,519,740 | A/T | — | uncertain significance |
| rs375094633 | 3:38,519,742 | C/T | — | uncertain significance |
| rs572594763 | 3:38,519,743 | G/A | — | likely benign |
| rs370063198 | 3:38,519,749 | G/A | — | uncertain significance |
| rs1477430904 | 3:38,519,768 | T/C | — | likely benign |
| rs770133919 | 3:38,519,771 | G/C | — | likely benign |
| rs35882617 | 3:38,519,870 | C/G | — | uncertain significance |
| rs1575587866 | 3:38,519,885 | C/T | — | uncertain significance |
| rs886058386 | 3:38,519,889 | C/T | — | uncertain significance |
| rs1279855513 | 3:38,519,896 | G/C | — | uncertain significance |
| rs2471258166 | 3:38,519,921 | T/G | — | uncertain significance |
| rs2471258289 | 3:38,519,957 | G/A | — | uncertain significance |
| rs1429244094 | 3:38,519,995 | A/T | — | uncertain significance |
| rs1333696990 | 3:38,520,011 | T/C | — | uncertain significance |
| rs187763364 | 3:38,520,014 | G/A | — | benign |
| rs1575587974 | 3:38,520,019 | T/C | — | likely benign |
| rs186009413 | 3:38,520,610 | C/T | — | benign |
| rs780014318 | 3:38,520,654 | C/T | — | likely benign |
| rs749214138 | 3:38,520,690 | G/C | — | uncertain significance |
| rs527396511 | 3:38,520,723 | C/T | — | benign |
| rs754436899 | 3:38,520,724 | G/A | — | uncertain significance |
| rs540729310 | 3:38,520,727 | G/C | — | uncertain significance |
| rs28619020 | 3:38,521,001 | C/T | — | benign |
| rs76343599 | 3:38,521,096 | C/T | — | benign |
| rs13097628 | 3:38,521,156 | T/C | — | benign |
| rs144849143 | 3:38,521,157 | G/A | — | likely benign |
| rs776301711 | 3:38,521,160 | T/C | — | likely benign |
| rs374268903 | 3:38,521,166 | C/T | — | uncertain significance |
| rs766644651 | 3:38,521,207 | A/G | — | uncertain significance |
| rs371729222 | 3:38,521,237 | G/A | — | likely benign |
| rs769170500 | 3:38,521,283 | C/T | — | uncertain significance |
| rs138692827 | 3:38,521,284 | G/A | — | uncertain significance |
| rs200335360 | 3:38,521,288 | C/T | — | uncertain significance |
| rs4407366 | 3:38,521,425 | C/T | — | benign |
| rs77120320 | 3:38,522,770 | T/C | — | benign |
| rs41285125 | 3:38,522,823 | T/C | — | likely benign |
| rs748795436 | 3:38,522,839 | C/T | — | uncertain significance |
| rs774784440 | 3:38,522,861 | G/A | — | uncertain significance |
| rs1490030050 | 3:38,522,863 | A/G | — | likely benign |
| rs2228012 | 3:38,522,875 | C/T | — | benign |
| rs760786857 | 3:38,522,887 | C/T | — | likely benign |
| rs564946664 | 3:38,522,950 | C/T | — | likely benign |
| rs4679053 | 3:38,523,495 | G/T | — | benign |
| rs192767800 | 3:38,523,670 | C/T | — | likely benign |
| rs115155428 | 3:38,523,684 | C/T | — | likely benign |
| rs2471265140 | 3:38,523,694 | C/T | — | likely benign |
| rs969747733 | 3:38,523,715 | T/C | — | likely benign |
| rs149695736 | 3:38,523,754 | C/T | — | likely benign |
| rs1559655653 | 3:38,523,761 | C/T | — | likely pathogenic |
| rs1710030273 | 3:38,523,762 | G/A | — | likely pathogenic |
| rs1249314121 | 3:38,523,765 | T/C | — | uncertain significance |
| rs1346683151 | 3:38,523,770 | A/C | — | uncertain significance |
Showing 100 of 322 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.