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.C476S

c.1427G>C

Surrounding Variants

1 paper

NM_004302.5

p.C476S

c.1426T>A

3 papers

NM_004302.5

p.R474*

c.1420C>T

2 papers

NM_004302.5

p.A482V

c.1445C>T

1 paper

NM_004302.5

p.G470delFs

c.1410delG

1 paper

NM_004302.5

p.M469V

c.1405A>G

2 papers

NM_004302.5

p.R484C

c.1450C>T

6 papers

NM_004302.5

p.R484H

c.1451G>A

3 papers

NM_004302.5

p.L485L

c.1453C>T

1 paper

NM_004302.5

p.R489C

c.1465C>T

2 papers

NM_004302.5

p.R489H

c.1466G>A

1 paper

NM_004302.5

p.I490S

c.1469T>G

1 paper

NM_004302.5

p.D502G

c.1505A>G