Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.S229L

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.S229L
c.686C>T
Surrounding Variants
1 paper
NM_001014342.3
p.G226insFs
c.676dupG
1 paper
NM_001014342.3
p.E233K
c.697G>A
1 paper
NM_001014342.3
p.E224delFs
c.670_671delTC
1 paper
NM_001014342.3
p.G243E
c.728G>A
1 paper
NM_001014342.3
p.L244F
c.732G>T
1 paper
NM_001014342.3
p.L244F
c.732G>C
1 paper
NM_001014342.3
p.E245K
c.733G>A
4 papers
NM_001014342.3
p.S211*
c.632C>G
3 papers
NM_001014342.3
p.S211*
c.632C>A
1 paper
NM_001014342.3
p.G248E
c.743G>A
1 paper
NM_001014342.3
p.R207T
c.620G>C
1 paper
NM_001014342.3
p.G198D
c.593G>A
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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."