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.W411*

c.1232G>A

Surrounding Variants

1 paper

NM_004302.5

p.W411S

c.1232G>C

1 paper

NM_004302.5

p.Y410*

c.1230T>A

1 paper

NM_004302.5

p.Y410*

c.1230T>G

1 paper

NM_004302.5

p.R415fs

c.1243_1244fs

1 paper

NM_004302.5

p.R415insFs

c.1243_1244insT

1 paper

NM_004302.5

p.G407E

c.1220G>A

1 paper

NM_004302.5

p.G407V

c.1220G>T

4 papers

NM_004302.5

p.G407R

c.1219G>A

4 papers

NM_004302.5

p.G407R

c.1219G>C

1 paper

NM_004302.5

p.A405V

c.1214C>T

1 paper

NM_004302.5

p.N418delFs

c.1252delA

1 paper

NM_004302.5

p.D402E

c.1206T>A