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.W122C

c.366G>T

Surrounding Variants

1 paper

NM_004302.5

p.W122C

c.366G>C

1 paper

NM_004302.5

p.G123S

c.367G>A

1 paper

NM_004302.5

p.G123R

c.367G>C

1 paper

NM_004302.5

p.S120F

c.359C>T

1 paper

NM_004302.5

p.V125G

c.374T>G

1 paper

NM_004302.5

p.E126*

c.376G>T

1 paper

NM_004302.5

p.E117Q

c.349G>C

1 paper

NM_004302.5

p.G129_I130insFs

c.387_388insC

2 papers

NM_004302.5

p.K114R

c.341A>G

1 paper

NM_004302.5

p.I131T

c.392T>C

1 paper

NM_004302.5

p.G133S

c.397G>A

1 paper

NM_004302.5

p.G111A

c.332G>C