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.G20D

c.59G>A

Surrounding Variants

1 paper

NM_004302.5

p.G20S

c.58G>A

1 paper

NM_004302.5

p.L18insFs

c.54dupC

1 paper

NM_004302.5

p.L18I

c.52C>A

1 paper

NM_004302.5

p.G23fs

c.67_68fs

1 paper

NM_004302.5

p.L17R

c.50T>G

2 papers

NM_004302.5

p.S24A

c.70T>G

1 paper

NM_004302.5

p.S24delFs

c.71delC

1 paper

NM_004302.5

p.G25E

c.74G>A

1 paper

NM_004302.5

p.P26S

c.76C>T

1 paper

NM_004302.5

p.V14D

c.41T>A

1 paper

NM_004302.5

p.L13fs

c.37_38fs

1 paper

NM_004302.5

p.L13F

c.37C>T