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.R201C

c.601C>T

Surrounding Variants

5 papers

NM_004302.5

p.R201H

c.602G>A

1 paper

NM_004302.5

p.T202A

c.604A>G

1 paper

NM_004302.5

p.T202I

c.605C>T

1 paper

NM_004302.5

p.A204D

c.611C>A

1 paper

NM_004302.5

p.A204V

c.611C>T

1 paper

NM_004302.5

p.L197fs

c.589_590fs

2 papers

NM_004302.5

p.R205*

c.613C>T

1 paper

NM_004302.5

p.T206P

c.616A>C

1 paper

NM_004302.5

p.T206A

c.616A>G

1 paper

NM_004302.5

p.P196S

c.586C>T

1 paper

NM_004302.5

p.L197insFs

c.589dupC

1 paper

NM_004302.5

p.V208delFs

c.623delT