Varaico: Literature-Extracted Genetic Variants

Gene:CFL1
Variant:p.E50A

CFL1

149 papers

RefSeq Summary

The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganizatio...

Pfam Domains

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

Gene Aliases

HGNC Name

cofilin 1

HGNC Previous Name

cofilin 1 (non-muscle)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005507.3
p.E50A
c.149A>C
Surrounding Variants
1 paper
NM_005507.3
p.E50K
c.148G>A
1 paper
NM_005507.3
p.K53R
c.158A>G
1 paper
NM_005507.3
p.I47V
c.139A>G
1 paper
NM_005507.3
p.K45R
c.134A>G
1 paper
NM_005507.3
p.K45E
c.133A>G
1 paper
NM_005507.3
p.K44R
c.131A>G
1 paper
NM_005507.3
p.G61S
c.181G>A
2 papers
NM_005507.3
p.C39F
c.116G>T
1 paper
NM_005507.3
p.C39S
c.116G>C
1 paper
NM_005507.3
p.C39S
c.115T>A
1 paper
NM_005507.3
p.G61G
c.183C>T
1 paper
NM_005507.3
p.V64I
c.190G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."