Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.S2320S

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.S2320S
c.6960C>T
Surrounding Variants
1 paper
NM_001014342.3
p.S2322P
c.6964T>C
1 paper
NM_001014342.3
p.Q2314K
c.6940C>A
1 paper
NM_001014342.3
p.G2313E
c.6938G>A
1 paper
NM_001014342.3
p.Q2329*
c.6985C>T
1 paper
NM_001014342.3
p.S2332I
c.6995G>T
1 paper
NM_001014342.3
p.G2308A
c.6923G>C
1 paper
NM_001014342.3
p.R2337K
c.7010G>A
1 paper
NM_001014342.3
p.Y2349N
c.7045T>A
1 paper
NM_001014342.3
p.T2289K
c.6866C>A
1 paper
NM_001014342.3
p.Y2354N
c.7060T>A
1 paper
NM_001014342.3
p.G2287E
c.6860G>A
1 paper
NM_001014342.3
p.G2287R
c.6859G>C
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