Varaico: Literature-Extracted Genetic Variants

Gene:CFL2
Variant:p.K44R

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.K44R
c.131A>G
Surrounding Variants
1 paper
NM_138638.5
p.K44delFs
c.131_132delTT
2 papers
NM_138638.5
p.D43H
c.127G>C
1 paper
NM_138638.5
p.Q46fs
c.136_137fs
1 paper
NM_138638.5
p.D42N
c.124G>A
4 papers
NM_138638.5
p.I47M
c.141A>G
1 paper
NM_138638.5
p.C39G
c.115T>G
1 paper
NM_138638.5
p.A52T
c.154G>A
1 paper
NM_138638.5
p.A35A
c.105A>C
1 paper
NM_138638.5
p.K34_A35delFs
c.100_103del4
13 papers
NM_138638.5
p.A35T
c.103G>A
2 papers
NM_138638.5
p.K34fs
c.100_101fs
1 paper
NM_138638.5
p.L56_V57del2
c.166_170del6
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