Varaico: Literature-Extracted Genetic Variants

Gene:CFL1
Variant:p.C80S

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.C80S
c.238T>A
Surrounding Variants
1 paper
NM_005507.3
p.C80F
c.239G>T
1 paper
NM_005507.3
p.C80S
c.239G>C
1 paper
NM_005507.3
p.D79Y
c.235G>T
1 paper
NM_005507.3
p.K78R
c.233A>G
1 paper
NM_005507.3
p.Y82C
c.245A>G
1 paper
NM_005507.3
p.D77A
c.230A>C
1 paper
NM_005507.3
p.L84P
c.251T>C
2 papers
NM_005507.3
p.K73R
c.218A>G
1 paper
NM_005507.3
p.Y68C
c.203A>G
1 paper
NM_005507.3
p.K92R
c.275A>G
1 paper
NM_005507.3
p.K92K
c.276G>A
2 papers
NM_005507.3
p.D66D
c.198C>T
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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."