Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.G646R

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.G646R
c.1936G>C
Surrounding Variants
1 paper
NM_001014342.3
p.G646R
c.1936G>A
1 paper
NM_001014342.3
p.S652P
c.1954T>C
1 paper
NM_001014342.3
p.Y631C
c.1892A>G
1 paper
NM_001014342.3
p.Q670_H671del1
c.2010_2012delTGT
1 paper
NM_001014342.3
p.Q670_H671del2
c.2008_2012del6
2 papers
NM_001014342.3
p.S617S
c.1851T>C
1 paper
NM_001014342.3
p.S675T
c.2023T>A
1 paper
NM_001014342.3
p.R612G
c.1834A>G
1 paper
NM_001014342.3
p.G605S
c.1813G>A
1 paper
NM_001014342.3
p.S688L
c.2063C>T
2 papers
NM_001014342.3
p.H690Q
c.2070T>G
2 papers
NM_001014342.3
p.H690Q
c.2070T>A
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