Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.L41F

FLG2

263 papers

RefSeq Summary

The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification...

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

filaggrin 2

HGNC Alias Symbol

IFPS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001014342.3
p.L41F
c.121C>T
Surrounding Variants
1 paper
NM_001014342.3
p.L41Fs
c.121delinsTTFs
1 paper
NM_001014342.3
p.E40*
c.118G>T
1 paper
NM_001014342.3
p.L45M
c.133C>A
1 paper
NM_001014342.3
p.E24delins
c.71_72delinsTT
1 paper
NM_001014342.3
p.K20_E24delFs
c.58_70del13
1 paper
NM_001014342.3
p.E24insFs
c.70dupG
1 paper
NM_001014342.3
p.E24fs
c.70_71fs
1 paper
NM_001014342.3
p.K20_Q21ins1
c.60_61insAGC
1 paper
NM_001014342.3
p.Y18insFs
c.52dupT
2 papers
NM_001014342.3
p.D13Y
c.37G>T
1 paper
NM_001014342.3
p.V11I
c.31G>A
1 paper
NM_001014342.3
p.M1I
c.3G>A
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