Varaico: Literature-Extracted Genetic Variants

ACVR1B

243 papers

RefSeq Summary

This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally rela...

Pfam Domains

Activin_recpaa 31–107UCSCActivin types I and II receptor domain

TGF_beta_GSaa 178–205UCSCTransforming growth factor beta type I GS-motif

Pkinaseaa 207–494UCSCProtein kinase domain

Gene Aliases

HGNC Name

activin A receptor type 1B

HGNC Previous Symbol

ACVRLK4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004302.5

p.I212fs

c.634_635fs

Surrounding Variants

1 paper

NM_004302.5

p.I212delFs

c.635delT

1 paper

NM_004302.5

p.E211*

c.631G>T

1 paper

NM_004302.5

p.L209F

c.627A>C

1 paper

NM_004302.5

p.L209F

c.627A>T

2 papers

NM_004302.5

p.G214V

c.641G>T

1 paper

NM_004302.5

p.K215fs

c.643_644fs

1 paper

NM_004302.5

p.L209insFs

c.625_626insTG

1 paper

NM_004302.5

p.L209fs

c.625_626fs

1 paper

NM_004302.5

p.G216S

c.646G>A

1 paper

NM_004302.5

p.V208delFs

c.623delT

1 paper

NM_004302.5

p.R217W

c.649C>T

1 paper

NM_004302.5

p.R217Q

c.650G>A