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.R258K

c.773G>A

Surrounding Variants

3 papers

NM_001111067.4

p.R258M

c.773G>T

54 papers

NM_001111067.4

p.R258S

c.774G>T

55 papers

NM_001111067.4

p.R258S

c.774G>C

4 papers

NM_001111067.4

p.R258W

c.772A>T

48 papers

NM_001111067.4

p.R258G

c.772A>G

1 paper

NM_001111067.4

p.L257delFs

c.771delC

1 paper

NM_001111067.4

p.L257insFs

c.770dupT

2 papers

NM_001111067.4

p.E260K

c.778G>A

1 paper

NM_001111067.4

p.M256L

c.766A>T

1 paper

NM_001111067.4

p.N261_I262insFs

c.783_784insG

1 paper

NM_001111067.4

p.V255L

c.763G>T

1 paper

NM_001111067.4

p.V255L

c.763G>C