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.C99Y

c.296G>A

Surrounding Variants

1 paper

NM_001111067.4

p.C99delFs

c.296delC

2 papers

NM_001111067.4

p.N100D

c.298A>G

1 paper

NM_001111067.4

p.R101T

c.302G>C

1 paper

NM_001111067.4

p.G96delFs

c.288delC

1 paper

NM_001111067.4

p.N102D

c.304A>G

1 paper

NM_001111067.4

p.G96E

c.287G>A

1 paper

NM_001111067.4

p.N102delFs

c.305delT

1 paper

NM_001111067.4

p.I103V

c.307A>G

1 paper

NM_001111067.4

p.R101_I103delFs

c.301_307del7

1 paper

NM_001111067.4

p.C94G

c.280T>G

1 paper

NM_001111067.4

p.A105V

c.314C>T

1 paper

NM_001111067.4

p.Q106*

c.316C>T