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.S4S

c.12G>A

Surrounding Variants

1 paper

NM_004302.5

p.S4S

c.12G>C

1 paper

NM_004302.5

p.A5P

c.13G>C

1 paper

NM_004302.5

p.G6E

c.17G>A

1 paper

NM_004302.5

p.M1R

c.2T>G

1 paper

NM_004302.5

p.M1fs

c.1_2fs

1 paper

NM_004302.5

p.M1insFs

c.2dupT

1 paper

NM_004302.5

p.M1_A2del2

c.1_5del6

1 paper

NM_004302.5

p.M1delFs

c.1_2delAT

1 paper

NM_004302.5

p.L13delFs

c.37delC

1 paper

NM_004302.5

p.L13fs

c.37_38fs

1 paper

NM_004302.5

p.L13F

c.37C>T

1 paper

NM_004302.5

p.V14D

c.41T>A