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.V73A

c.218T>C

Surrounding Variants

1 paper

NM_004302.5

p.K72R

c.215A>G

1 paper

NM_004302.5

p.P71A

c.211C>G

1 paper

NM_004302.5

p.V76fs

c.226_227fs

1 paper

NM_004302.5

p.V76A

c.227T>C

1 paper

NM_004302.5

p.I70insFs

c.210dupC

1 paper

NM_004302.5

p.I70fs

c.208_209fs

2 papers

NM_004302.5

p.P77A

c.229C>G

1 paper

NM_004302.5

p.P77P

c.231T>C

1 paper

NM_004302.5

p.A78G

c.233C>G

1 paper

NM_004302.5

p.G79R

c.235G>A

1 paper

NM_004302.5

p.G79R

c.235G>C

2 papers

NM_004302.5

p.R67H

c.200G>A