Varaico: Literature-Extracted Genetic Variants

Gene:CFL2
Variant:p.D86H

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.D86H
c.256G>C
Surrounding Variants
1 paper
NM_138638.5
p.D86N
c.256G>A
1 paper
NM_138638.5
p.E90Q
c.268G>C
1 paper
NM_138638.5
p.R81Q
c.242G>A
1 paper
NM_138638.5
p.R81*
c.241C>T
1 paper
NM_138638.5
p.D79Y
c.235G>T
1 paper
NM_138638.5
p.S94fs
c.280_281fs
1 paper
NM_138638.5
p.S94delFs
c.281delG
1 paper
NM_138638.5
p.K95E
c.283A>G
1 paper
NM_138638.5
p.K96Q
c.286A>C
1 paper
NM_138638.5
p.S70_V72del3
c.208_215del9
1 paper
NM_138638.5
p.W104*
c.311G>A
1 paper
NM_138638.5
p.L56_V57del2
c.166_170del6
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