Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.H1969Q

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.H1969Q
c.5907C>A
Surrounding Variants
1 paper
NM_001014342.3
p.H1969Q
c.5907C>G
3 papers
NM_001014342.3
p.P1964H
c.5891C>A
1 paper
NM_001014342.3
p.H1982Q
c.5946C>G
1 paper
NM_001014342.3
p.H1982Q
c.5946C>A
1 paper
NM_001014342.3
p.Y1983H
c.5947T>C
1 paper
NM_001014342.3
p.P1984S
c.5950C>T
1 paper
NM_001014342.3
p.P1984A
c.5950C>G
1 paper
NM_001014342.3
p.P1984R
c.5951C>G
1 paper
NM_001014342.3
p.G1954S
c.5860G>A
1 paper
NM_001014342.3
p.I1941T
c.5822T>C
1 paper
NM_001014342.3
p.Q2000Q
c.6000A>G
1 paper
NM_001014342.3
p.R2006T
c.6017G>C
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