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.V65I

c.193G>A

Surrounding Variants

1 paper

NM_001111067.4

p.H64del1

c.190_191delGTG

1 paper

NM_001111067.4

p.H64R

c.191A>G

1 paper

NM_001111067.4

p.Q67*

c.199C>T

1 paper

NM_001111067.4

p.G62delFs

c.185delC

1 paper

NM_001111067.4

p.Q67delFs

c.199delG

1 paper

NM_001111067.4

p.D61V

c.182A>T

1 paper

NM_001111067.4

p.D61G

c.182A>G

1 paper

NM_001111067.4

p.D61N

c.181G>A

1 paper

NM_001111067.4

p.Q67_K68del2

c.199_203del6

1 paper

NM_001111067.4

p.G69V

c.206G>T

1 paper

NM_001111067.4

p.G69delFs

c.206_207delGC

1 paper

NM_001111067.4

p.N60Y

c.178A>T