Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.S2108Y

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
2 papers
NM_001014342.3
p.S2108Y
c.6323C>A
Surrounding Variants
4 papers
NM_001014342.3
p.V2113G
c.6338T>G
1 paper
NM_001014342.3
p.V2113E
c.6338T>A
3 papers
NM_001014342.3
p.G2102A
c.6305G>C
1 paper
NM_001014342.3
p.R2101S
c.6303G>T
1 paper
NM_001014342.3
p.R2101S
c.6303G>C
1 paper
NM_001014342.3
p.R2100K
c.6299G>A
1 paper
NM_001014342.3
p.V2117G
c.6350T>G
1 paper
NM_001014342.3
p.A2098S
c.6292G>T
1 paper
NM_001014342.3
p.A2098T
c.6292G>A
1 paper
NM_001014342.3
p.Y2126H
c.6376T>C
3 papers
NM_001014342.3
p.H2087R
c.6260A>G
1 paper
NM_001014342.3
p.Q2132P
c.6395A>C
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