Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.S717P

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.S717P
c.2149T>C
Surrounding Variants
3 papers
NM_001014342.3
p.S701N
c.2102G>A
1 paper
NM_001014342.3
p.S737S
c.2211A>G
1 paper
NM_001014342.3
p.Q695L
c.2084A>T
1 paper
NM_001014342.3
p.S691F
c.2072C>T
2 papers
NM_001014342.3
p.H690Q
c.2070T>G
2 papers
NM_001014342.3
p.H690Q
c.2070T>A
1 paper
NM_001014342.3
p.S688L
c.2063C>T
1 paper
NM_001014342.3
p.G749V
c.2246G>T
1 paper
NM_001014342.3
p.S750fs
c.2248_2249fs
1 paper
NM_001014342.3
p.S675T
c.2023T>A
1 paper
NM_001014342.3
p.Q760L
c.2279A>T
1 paper
NM_001014342.3
p.Q670_H671del2
c.2008_2012del6
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