Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.S1492R

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.S1492R
c.4474A>C
Surrounding Variants
1 paper
NM_001014342.3
p.S1492R
c.4476T>G
1 paper
NM_001014342.3
p.S1492R
c.4476T>A
1 paper
NM_001014342.3
p.S1499Y
c.4496C>A
1 paper
NM_001014342.3
p.H1482R
c.4445A>G
1 paper
NM_001014342.3
p.H1482D
c.4444C>G
1 paper
NM_001014342.3
p.Y1481S
c.4442A>C
1 paper
NM_001014342.3
p.H1478L
c.4433A>T
1 paper
NM_001014342.3
p.S1507N
c.4520G>A
2 papers
NM_001014342.3
p.H1510H
c.4530C>T
1 paper
NM_001014342.3
p.S1514S
c.4542G>A
1 paper
NM_001014342.3
p.H1522delFs
c.4564delG
1 paper
NM_001014342.3
p.G1458E
c.4373G>A
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