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.H47L

c.140A>T

Surrounding Variants

2 papers

NM_001111067.4

p.H47Q

c.141C>G

1 paper

NM_001111067.4

p.H47Q

c.141C>A

1 paper

NM_001111067.4

p.H47delFs

c.140delT

1 paper

NM_001111067.4

p.C48Y

c.143G>A

1 paper

NM_001111067.4

p.E49*

c.145G>T

1 paper

NM_001111067.4

p.E49K

c.145G>A

2 papers

NM_001111067.4

p.E45V

c.134A>T

1 paper

NM_001111067.4

p.E49V

c.146A>T

1 paper

NM_001111067.4

p.E45G

c.134A>G

2 papers

NM_001111067.4

p.E45K

c.133G>A

1 paper

NM_001111067.4

p.G50C

c.148G>T

1 paper

NM_001111067.4

p.G43delFs

c.128delC