Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.V151G

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.V151G
c.452T>G
Surrounding Variants
1 paper
NM_001014342.3
p.G145E
c.434G>A
1 paper
NM_001014342.3
p.S159P
c.475T>C
2 papers
NM_001014342.3
p.Y142C
c.425A>G
1 paper
NM_001014342.3
p.R160R
c.480G>A
1 paper
NM_001014342.3
p.L162R
c.485T>G
1 paper
NM_001014342.3
p.E139*
c.415G>T
1 paper
NM_001014342.3
p.G137E
c.410G>A
1 paper
NM_001014342.3
p.L168*
c.503T>G
1 paper
NM_001014342.3
p.L168*
c.503T>A
2 papers
NM_001014342.3
p.L168F
c.504A>T
2 papers
NM_001014342.3
p.L168F
c.504A>C
1 paper
NM_001014342.3
p.S169F
c.506C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."