Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.F946S

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.F946S
c.2837T>C
Surrounding Variants
1 paper
NM_001014342.3
p.T945T
c.2835T>A
1 paper
NM_001014342.3
p.R952G
c.2854A>G
2 papers
NM_001014342.3
p.S953P
c.2857T>C
1 paper
NM_001014342.3
p.S953L
c.2858C>T
1 paper
NM_001014342.3
p.H964Y
c.2890C>T
1 paper
NM_001014342.3
p.G965*
c.2893G>T
1 paper
NM_001014342.3
p.S920S
c.2760T>C
1 paper
NM_001014342.3
p.F974S
c.2921T>C
2 papers
NM_001014342.3
p.E978G
c.2933A>G
1 paper
NM_001014342.3
p.Q912H
c.2736A>T
2 papers
NM_001014342.3
p.Q912Q
c.2736A>G
1 paper
NM_001014342.3
p.Q912H
c.2736A>C
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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."