Varaico: Literature-Extracted Genetic Variants

Gene:CFL2
Variant:p.K30K

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
1 paper
NM_138638.5
p.K30K
c.90A>G
Surrounding Variants
2 papers
NM_138638.5
p.K34fs
c.100_101fs
1 paper
NM_138638.5
p.E27K
c.79G>A
13 papers
NM_138638.5
p.A35T
c.103G>A
1 paper
NM_138638.5
p.Q26P
c.77A>C
1 paper
NM_138638.5
p.K34_A35delFs
c.100_103del4
1 paper
NM_138638.5
p.A35A
c.105A>C
1 paper
NM_138638.5
p.T25I
c.74C>T
1 paper
NM_138638.5
p.T25R
c.74C>G
2 papers
NM_138638.5
p.T25A
c.73A>G
1 paper
NM_138638.5
p.S24del1
c.70_71delAGA
1 paper
NM_138638.5
p.V20_K22del3
c.58_65del9
1 paper
NM_138638.5
p.C39G
c.115T>G
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