Varaico: Literature-Extracted Genetic Variants

ACVR1

792 papers

RefSeq 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...

Pfam Domains

Activin_recpaa 32–106UCSCActivin types I and II receptor domain

TGF_beta_GSaa 179–206UCSCTransforming growth factor beta type I GS-motif

PK_Tyr_Ser-Thraa 208–495UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

activin A receptor type 1

HGNC Previous Symbol

ACVRLK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

44 papers

NM_001111067.4

p.G328W

c.982G>T

Surrounding Variants

39 papers

NM_001111067.4

p.G328R

c.982G>C

40 papers

NM_001111067.4

p.G328R

c.982G>A

63 papers

NM_001111067.4

p.G328V

c.983G>T

95 papers

NM_001111067.4

p.G328E

c.983G>A

1 paper

NM_001111067.4

p.T326delFs

c.976_977delGT

1 paper

NM_001111067.4

p.K329fs

c.985_986fs

1 paper

NM_001111067.4

p.P330S

c.988C>T

1 paper

NM_001111067.4

p.K329delFs

c.987delT

1 paper

NM_001111067.4

p.T326A

c.976A>G

1 paper

NM_001111067.4

p.P330L

c.989C>T

27 papers

NM_001111067.4

p.G325A

c.974G>C

2 papers

NM_001111067.4

p.G325E

c.974G>A