Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.E93insFs

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
3 papers
NM_001616.5
p.E93insFs
c.278dupA
Surrounding Variants
6 papers
NM_001616.5
p.E93fs
c.277_278fs
1 paper
NM_001616.5
p.E93*
c.277G>T
8 papers
NM_001616.5
p.K95delFs
c.285delA
1 paper
NM_001616.5
p.E93G
c.278A>G
1 paper
NM_001616.5
p.V92_K94delFs
c.276_280del5
2 papers
NM_001616.5
p.K94fs
c.280_281fs
1 paper
NM_001616.5
p.K94I
c.281A>T
2 papers
NM_001616.5
p.C91Y
c.272G>A
1 paper
NM_001616.5
p.D96H
c.286G>C
1 paper
NM_001616.5
p.D96fs
c.286_287fs
9 papers
NM_001616.5
p.D96fs
c.286_287fs
1 paper
NM_001616.5
p.D96_S97insFs
c.288_289insC
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