Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.N1095S

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
1 paper
NM_001014342.3
p.N1095S
c.3284A>G
Surrounding Variants
1 paper
NM_001014342.3
p.G1097E
c.3290G>A
1 paper
NM_001014342.3
p.S1100F
c.3299C>T
1 paper
NM_001014342.3
p.R1106S
c.3318G>T
1 paper
NM_001014342.3
p.R1106S
c.3318G>C
2 papers
NM_001014342.3
p.P1107S
c.3319C>T
1 paper
NM_001014342.3
p.P1107P
c.3321A>C
1 paper
NM_001014342.3
p.P1107delFs
c.3321delT
1 paper
NM_001014342.3
p.Y1118H
c.3352T>C
1 paper
NM_001014342.3
p.R1072L
c.3215G>T
1 paper
NM_001014342.3
p.R1072H
c.3215G>A
2 papers
NM_001014342.3
p.R1072S
c.3214C>A
1 paper
NM_001014342.3
p.S1071L
c.3212C>T
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