Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.S1457*

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.S1457*
c.4370C>G
Surrounding Variants
1 paper
NM_001014342.3
p.S1457*
c.4370C>A
1 paper
NM_001014342.3
p.G1458E
c.4373G>A
1 paper
NM_001014342.3
p.H1454R
c.4361A>G
1 paper
NM_001014342.3
p.G1451R
c.4351G>C
1 paper
NM_001014342.3
p.G1451R
c.4351G>A
1 paper
NM_001014342.3
p.G1448S
c.4342G>A
1 paper
NM_001014342.3
p.H1478L
c.4433A>T
1 paper
NM_001014342.3
p.G1435R
c.4303G>C
1 paper
NM_001014342.3
p.G1435R
c.4303G>A
1 paper
NM_001014342.3
p.Y1481S
c.4442A>C
2 papers
NM_001014342.3
p.H1433Y
c.4297C>T
1 paper
NM_001014342.3
p.H1482D
c.4444C>G
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