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

1–12 of 311 variants

6 papers

NM_004302.5

p.R484H

c.1451G>A

5 papers

NM_004302.5

p.R201H

c.602G>A

4 papers

NM_004302.5

p.G407R

c.1219G>A

4 papers

NM_004302.5

p.G407R

c.1219G>C

4 papers

NM_004302.5

p.R444*

c.1330C>T

3 papers

NM_004302.5

p.L140_I141del1

c.419_421delTCA

3 papers

NM_004302.5

p.R474*

c.1420C>T

3 papers

NM_004302.5

p.L485L

c.1453C>T

2 papers

NM_004302.5

p.S24A

c.70T>G

2 papers

NM_004302.5

p.L33R

c.98T>G

2 papers

NM_004302.5

p.C34Y

c.101G>A

2 papers

NM_004302.5

p.C46S

c.136T>A