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

78 papers

NM_001111067.4

p.K27M

c.80A>T

Surrounding Variants

2 papers

NM_001111067.4

p.K27R

c.80A>G

1 paper

NM_001111067.4

p.P26delFs

c.76delG

1 paper

NM_001111067.4

p.V28I

c.82G>A

1 paper

NM_001111067.4

p.P26S

c.76C>T

1 paper

NM_001111067.4

p.V28delFs

c.83delA

1 paper

NM_001111067.4

p.K25del1

c.73_74delCTT

1 paper

NM_001111067.4

p.K25E

c.73A>G

1 paper

NM_001111067.4

p.P30S

c.88C>T

1 paper

NM_001111067.4

p.L32V

c.94C>G

1 paper

NM_001111067.4

p.L32P

c.95T>C

1 paper

NM_001111067.4

p.L32H

c.95T>A

1 paper

NM_001111067.4

p.Y33*

c.99C>A