Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.D177E

ACVR2A

324 papers

RefSeq Summary

This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The enco...

Pfam Domains

Pkinaseaa 195–481UCSCProtein kinase domain

Gene Aliases

HGNC Name

activin A receptor type 2A

HGNC Previous Symbol

ACVR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001616.5
p.D177E
c.531C>A
Surrounding Variants
6 papers
NM_001616.5
p.D177E
c.531C>G
1 paper
NM_001616.5
p.P178L
c.533C>T
1 paper
NM_001616.5
p.D177N
c.529G>A
1 paper
NM_001616.5
p.G179E
c.536G>A
2 papers
NM_001616.5
p.P180fs
c.538_539fs
1 paper
NM_001616.5
p.P181insFs
c.541dupC
1 paper
NM_001616.5
p.P182delFs
c.545delC
1 paper
NM_001616.5
p.P182fs
c.544_545fs
1 paper
NM_001616.5
p.P183S
c.547C>T
1 paper
NM_001616.5
p.P183H
c.548C>A
1 paper
NM_001616.5
p.P185L
c.554C>T
1 paper
NM_001616.5
p.L187L
c.559C>T
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