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

3 papers

NM_004302.5

p.L140_I141del1

c.419_421delTCA

Surrounding Variants

1 paper

NM_004302.5

p.I141L

c.421A>C

1 paper

NM_004302.5

p.I142N

c.425T>A

1 paper

NM_004302.5

p.I143V

c.427A>G

1 paper

NM_004302.5

p.I143N

c.428T>A

2 papers

NM_004302.5

p.I144del1

c.430_431delATT

1 paper

NM_004302.5

p.P134L

c.401C>T

1 paper

NM_004302.5

p.L147F

c.439C>T

1 paper

NM_004302.5

p.G133S

c.397G>A

1 paper

NM_004302.5

p.V148A

c.443T>C

1 paper

NM_004302.5

p.I131T

c.392T>C

1 paper

NM_004302.5

p.I149V

c.445A>G

1 paper

NM_004302.5

p.N150I

c.449A>T