Varaico: Literature-Extracted Genetic Variants

Gene:PFN2
Variant:p.E117G

PFN2

41 papers

RefSeq Summary

The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. Th...

Pfam Domains

Profilinaa 2–140UCSCProfilin

Gene Aliases

HGNC Name

profilin 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_053024.4
p.E117G
c.350A>G
Surrounding Variants
2 papers
NM_053024.4
p.G118V
c.353G>T
1 paper
NM_053024.4
p.H120R
c.359A>G
1 paper
NM_053024.4
p.G121R
c.361G>A
1 paper
NM_053024.4
p.G121A
c.362G>C
1 paper
NM_053024.4
p.A128T
c.382G>A
1 paper
NM_053024.4
p.Y129C
c.386A>G
1 paper
NM_053024.4
p.Y134S
c.401A>C
1 paper
NM_053024.4
p.V109Splc
c.326-289A>G
1 paper
NM_053024.4
p.T98I
c.293C>T
1 paper
NM_053024.4
p.E96Q
c.286G>C
1 paper
NM_053024.4
p.G94D
c.281G>A
1 paper
NM_053024.4
p.S92G
c.274A>G
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