Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.D1429Y

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.D1429Y
c.4285G>T
Surrounding Variants
2 papers
NM_001014342.3
p.H1433Y
c.4297C>T
1 paper
NM_001014342.3
p.H1424H
c.4272T>C
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.R1415S
c.4245G>T
1 paper
NM_001014342.3
p.R1415S
c.4245G>C
1 paper
NM_001014342.3
p.S1414fs
c.4240_4241fs
1 paper
NM_001014342.3
p.G1413delFs
c.4239delC
1 paper
NM_001014342.3
p.G1413E
c.4238G>A
1 paper
NM_001014342.3
p.G1448S
c.4342G>A
1 paper
NM_001014342.3
p.G1451R
c.4351G>C
1 paper
NM_001014342.3
p.G1451R
c.4351G>A
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