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.M34V

c.100A>G

Surrounding Variants

1 paper

NM_001111067.4

p.L32_Y33del2

c.94_98del6

1 paper

NM_001111067.4

p.Y33*

c.99C>A

1 paper

NM_001111067.4

p.L32P

c.95T>C

1 paper

NM_001111067.4

p.C35*

c.105T>A

1 paper

NM_001111067.4

p.L32H

c.95T>A

1 paper

NM_001111067.4

p.L32V

c.94C>G

2 papers

NM_001111067.4

p.V36E

c.107T>A

1 paper

NM_001111067.4

p.C37S

c.110G>C

1 paper

NM_001111067.4

p.P30S

c.88C>T

1 paper

NM_001111067.4

p.E38delFs

c.114delT

1 paper

NM_001111067.4

p.V28delFs

c.83delA

1 paper

NM_001111067.4

p.G39delFs

c.115_116delCC