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.T93A

c.277A>G

Surrounding Variants

1 paper

NM_004302.5

p.R91C

c.271C>T

1 paper

NM_004302.5

p.C96_Y97insFs

c.288_289insC

1 paper

NM_004302.5

p.S87*

c.260C>A

1 paper

NM_004302.5

p.S87A

c.259T>G

1 paper

NM_004302.5

p.D99G

c.296A>G

1 paper

NM_004302.5

p.Y100*

c.300C>A

1 paper

NM_004302.5

p.Y100*

c.300C>G

1 paper

NM_004302.5

p.C101_R103delFs

c.301_307del7

1 paper

NM_004302.5

p.P81S

c.241C>T

1 paper

NM_004302.5

p.G79G

c.237G>T

1 paper

NM_004302.5

p.G79E

c.236G>A

1 paper

NM_004302.5

p.G79A

c.236G>C