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

2 papers

NM_004302.5

p.C46S

c.136T>A

Surrounding Variants

1 paper

NM_004302.5

p.C46R

c.136T>C

1 paper

NM_004302.5

p.C46S

c.137G>C

1 paper

NM_004302.5

p.D49Y

c.145G>T

1 paper

NM_004302.5

p.D49V

c.146A>T

1 paper

NM_004302.5

p.G50A

c.149G>C

1 paper

NM_004302.5

p.G50V

c.149G>T

1 paper

NM_004302.5

p.A51V

c.152C>T

1 paper

NM_004302.5

p.C52F

c.155G>T

1 paper

NM_004302.5

p.C52C

c.156C>T

1 paper

NM_004302.5

p.S55A

c.163T>G

1 paper

NM_004302.5

p.A35V

c.104C>T

1 paper

NM_004302.5

p.A35P

c.103G>C