Varaico: Literature-Extracted Genetic Variants

Gene:PFN3
Variant:p.M134I

PFN3

12 papers

RefSeq Summary

The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a sing...

Pfam Domains

Profilinaa 2–137UCSCProfilin

Gene Aliases

HGNC Name

profilin 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001029886.3
p.M134I
c.402G>C
Surrounding Variants
1 paper
NM_001029886.3
p.M134I
c.402G>T
1 paper
NM_001029886.3
p.M134I
c.402G>A
1 paper
NM_001029886.3
p.G118V
c.353G>T
1 paper
NM_001029886.3
p.P104L
c.311C>T
1 paper
NM_001029886.3
p.R102C
c.304C>T
1 paper
NM_001029886.3
p.A88insFs
c.262_263ins22
1 paper
NM_001029886.3
p.A88fs
c.262_263fs
1 paper
NM_001029886.3
p.A62V
c.185C>T
1 paper
NM_001029886.3
p.G37R
c.109G>C
1 paper
NM_001029886.3
p.G37R
c.109G>A
1 paper
NM_001029886.3
p.R35W
c.103C>T
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