Varaico: Literature-Extracted Genetic Variants

Gene:FLG2

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
1–12 of 474 variants
19 papers
NM_001014342.3
p.S2377*
c.7130C>A
18 papers
NM_001014342.3
p.S2377*
c.7130C>G
10 papers
NM_001014342.3
p.C298S
c.892T>A
10 papers
NM_001014342.3
p.C298S
c.893G>C
7 papers
NM_001014342.3
p.L41F
c.121C>T
7 papers
NM_001014342.3
p.R276Q
c.827G>A
5 papers
NM_001014342.3
p.C298R
c.892T>C
5 papers
NM_001014342.3
p.A2050T
c.6148G>A
5 papers
NM_001014342.3
p.G2055R
c.6163G>C
5 papers
NM_001014342.3
p.G2055R
c.6163G>A
4 papers
NM_001014342.3
p.S211*
c.632C>G
4 papers
NM_001014342.3
p.A818S
c.2452G>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."