Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.C495Y

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.C495Y
c.1484G>A
Surrounding Variants
1 paper
NM_001014342.3
p.Q494K
c.1480C>A
1 paper
NM_001014342.3
p.G493E
c.1478G>A
1 paper
NM_001014342.3
p.F505V
c.1513T>G
1 paper
NM_001014342.3
p.Q507_H508insA
c.1519_1523ins3
1 paper
NM_001014342.3
p.G483V
c.1448G>T
1 paper
NM_001014342.3
p.Q507Q
c.1521G>A
1 paper
NM_001014342.3
p.G480A
c.1439G>C
1 paper
NM_001014342.3
p.S510F
c.1529C>T
2 papers
NM_001014342.3
p.V511G
c.1532T>G
2 papers
NM_001014342.3
p.T476I
c.1427C>T
1 paper
NM_001014342.3
p.S460L
c.1379C>T
1 paper
NM_001014342.3
p.G532E
c.1595G>A
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