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

1–12 of 527 variants

408 papers

NM_001111067.4

p.R206H

c.617G>A

95 papers

NM_001111067.4

p.G328E

c.983G>A

89 papers

NM_001111067.4

p.G356D

c.1067G>A

78 papers

NM_001111067.4

p.K27M

c.80A>T

65 papers

NM_001111067.4

p.Q207E

c.619C>G

63 papers

NM_001111067.4

p.G328V

c.983G>T

55 papers

NM_001111067.4

p.R258S

c.774G>C

54 papers

NM_001111067.4

p.R258S

c.774G>T

48 papers

NM_001111067.4

p.R258G

c.772A>G

44 papers

NM_001111067.4

p.G328W

c.982G>T

40 papers

NM_001111067.4

p.G328R

c.982G>A

39 papers

NM_001111067.4

p.G328R

c.982G>C