Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.S778R

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.S778R
c.2334T>G
Surrounding Variants
1 paper
NM_001014342.3
p.S774N
c.2321G>A
1 paper
NM_001014342.3
p.S774G
c.2320A>G
1 paper
NM_001014342.3
p.Q785H
c.2355A>T
1 paper
NM_001014342.3
p.Q785H
c.2355A>C
1 paper
NM_001014342.3
p.R764G
c.2290A>G
1 paper
NM_001014342.3
p.G793G
c.2379C>T
1 paper
NM_001014342.3
p.Q760L
c.2279A>T
1 paper
NM_001014342.3
p.H797Q
c.2391T>G
1 paper
NM_001014342.3
p.H797Q
c.2391T>A
1 paper
NM_001014342.3
p.S802G
c.2404A>G
1 paper
NM_001014342.3
p.S750fs
c.2248_2249fs
1 paper
NM_001014342.3
p.G749V
c.2246G>T
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