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.R240H

c.719G>A

Surrounding Variants

1 paper

NM_001111067.4

p.R240P

c.719G>C

1 paper

NM_001111067.4

p.D241V

c.722A>T

1 paper

NM_001111067.4

p.S239T

c.715T>A

1 paper

NM_001111067.4

p.E242*

c.724G>T

1 paper

NM_001111067.4

p.S238F

c.713C>T

1 paper

NM_001111067.4

p.I236L

c.706A>C

1 paper

NM_001111067.4

p.K235delFs

c.704delT

4 papers

NM_001111067.4

p.K235R

c.704A>G

1 paper

NM_001111067.4

p.F246L

c.736T>C

2 papers

NM_001111067.4

p.F246S

c.737T>C

9 papers

NM_001111067.4

p.F246Y

c.737T>A

1 paper

NM_001111067.4

p.V234M

c.700G>A