Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.E119K

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
1 paper
NM_001616.5
p.E119K
c.355G>A
Surrounding Variants
2 papers
NM_001616.5
p.P118P
c.354G>A
1 paper
NM_001616.5
p.P118L
c.353C>T
1 paper
NM_001616.5
p.F117Y
c.350T>A
2 papers
NM_001616.5
p.F117I
c.349T>A
1 paper
NM_001616.5
p.F117_P118delFs
c.350_353del4
2 papers
NM_001616.5
p.T123S
c.367A>T
1 paper
NM_001616.5
p.Q124*
c.370C>T
1 paper
NM_001616.5
p.K113fs
c.337_338fs
1 paper
NM_001616.5
p.P125L
c.374C>T
2 papers
NM_001616.5
p.E112*
c.334G>T
2 papers
NM_001616.5
p.E112delFs
c.335_336delAA
1 paper
NM_001616.5
p.N111T
c.332A>C
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