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.H320P

c.959A>C

Surrounding Variants

1 paper

NM_001111067.4

p.E322fs

c.964_965fs

1 paper

NM_001111067.4

p.I323V

c.967A>G

1 paper

NM_001111067.4

p.I323_F324del2

c.967_971del6

27 papers

NM_001111067.4

p.G325A

c.974G>C

2 papers

NM_001111067.4

p.G325E

c.974G>A

1 paper

NM_001111067.4

p.S314_G315insFs

c.942_943insT

1 paper

NM_001111067.4

p.T326A

c.976A>G

1 paper

NM_001111067.4

p.S314T

c.941G>C

1 paper

NM_001111067.4

p.T326delFs

c.976_977delGT

44 papers

NM_001111067.4

p.G328W

c.982G>T

39 papers

NM_001111067.4

p.G328R

c.982G>C

40 papers

NM_001111067.4

p.G328R

c.982G>A