Varaico: Literature-Extracted Genetic Variants

Gene:CFL2
Variant:p.A2D

CFL2

65 papers

RefSeq Summary

This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- a...

Pfam Domains

Cofilin_ADFaa 4–153UCSCCofilin/tropomyosin-type actin-binding protein

Gene Aliases

HGNC Name

cofilin 2

HGNC Alias Symbol

NEM7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_138638.5
p.A2D
c.5C>A
Surrounding Variants
2 papers
NM_138638.5
p.A2T
c.4G>A
2 papers
NM_138638.5
p.G4A
c.11G>C
2 papers
NM_138638.5
p.G4E
c.11G>A
5 papers
NM_138638.5
p.V7M
c.19G>A
1 paper
NM_138638.5
p.N8delFs
c.24delA
1 paper
NM_138638.5
p.I12F
c.34A>T
1 paper
NM_138638.5
p.M18L
c.52A>T
1 paper
NM_138638.5
p.K19fs
c.55_56fs
1 paper
NM_138638.5
p.K19delFs
c.56_57delTT
1 paper
NM_138638.5
p.V20_K22del3
c.58_65del9
2 papers
NM_138638.5
p.T25A
c.73A>G
1 paper
NM_138638.5
p.S24del1
c.70_71delAGA
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