Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.H456Y

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.H456Y
c.1366C>T
Surrounding Variants
1 paper
NM_001014342.3
p.G454G
c.1362C>A
1 paper
NM_001014342.3
p.S460L
c.1379C>T
1 paper
NM_001014342.3
p.Q451*
c.1351C>T
1 paper
NM_001014342.3
p.H445L
c.1334A>T
1 paper
NM_001014342.3
p.E443V
c.1328A>T
1 paper
NM_001014342.3
p.E443K
c.1327G>A
1 paper
NM_001014342.3
p.F442L
c.1326C>G
1 paper
NM_001014342.3
p.F442L
c.1326C>A
1 paper
NM_001014342.3
p.F442L
c.1324T>C
2 papers
NM_001014342.3
p.T476I
c.1427C>T
1 paper
NM_001014342.3
p.H432D
c.1294C>G
1 paper
NM_001014342.3
p.G480A
c.1439G>C
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