Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.R562T

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.R562T
c.1685G>C
Surrounding Variants
1 paper
NM_001014342.3
p.S561F
c.1682C>T
1 paper
NM_001014342.3
p.S561P
c.1681T>C
1 paper
NM_001014342.3
p.E563E
c.1689G>A
1 paper
NM_001014342.3
p.E563_T564delFs
c.1689_1692del4
1 paper
NM_001014342.3
p.S565Y
c.1694C>A
1 paper
NM_001014342.3
p.S554fs
c.1660_1661fs
1 paper
NM_001014342.3
p.L572S
c.1715T>C
2 papers
NM_001014342.3
p.L572F
c.1716G>T
2 papers
NM_001014342.3
p.L572F
c.1716G>C
1 paper
NM_001014342.3
p.G575S
c.1723G>A
1 paper
NM_001014342.3
p.G549A
c.1646G>C
1 paper
NM_001014342.3
p.Y583C
c.1748A>G
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