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

2 papers

NM_001111067.4

p.T302I

c.905C>T

Surrounding Variants

1 paper

NM_001111067.4

p.V303delFs

c.907delC

1 paper

NM_001111067.4

p.D301G

c.902A>G

1 paper

NM_001111067.4

p.L300P

c.899T>C

1 paper

NM_001111067.4

p.S304I

c.911G>T

1 paper

NM_001111067.4

p.S304N

c.911G>A

2 papers

NM_001111067.4

p.C305S

c.913T>A

2 papers

NM_001111067.4

p.C305S

c.914G>C

1 paper

NM_001111067.4

p.T299S

c.896C>G

1 paper

NM_001111067.4

p.T299S

c.895A>T

1 paper

NM_001111067.4

p.C305del1

c.913_914delGCA

1 paper

NM_001111067.4

p.L306P

c.917T>C

1 paper

NM_001111067.4

p.T298S

c.893C>G