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

1 paper

NM_001111067.4

p.G356Splc

c.1067-2A>G

Surrounding Variants

1 paper

NM_001111067.4

p.G356R

c.1066G>C

1 paper

NM_001111067.4

p.G356Splc

c.1067-3C>T

89 papers

NM_001111067.4

p.G356D

c.1067G>A

1 paper

NM_001111067.4

p.L357Q

c.1070T>A

1 paper

NM_001111067.4

p.V359I

c.1075G>A

1 paper

NM_001111067.4

p.M360V

c.1078A>G

1 paper

NM_001111067.4

p.H361Y

c.1081C>T

1 paper

NM_001111067.4

p.H361D

c.1081C>G

1 paper

NM_001111067.4

p.H361N

c.1081C>A

1 paper

NM_001111067.4

p.H361_S362del2

c.1081_1085del6

1 paper

NM_001111067.4

p.N366insFs

c.1096_1097insC

1 paper

NM_001111067.4

p.G356Splc

c.1067-43G>A