Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.S177F

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.S177F
c.530C>T
Surrounding Variants
1 paper
NM_001014342.3
p.Q178P
c.533A>C
1 paper
NM_001014342.3
p.Q174_Q178delFs
c.520_533del14
1 paper
NM_001014342.3
p.R180K
c.539G>A
1 paper
NM_001014342.3
p.R183R
c.549G>A
1 paper
NM_001014342.3
p.S169_S170insFs
c.507_508insA
1 paper
NM_001014342.3
p.S169F
c.506C>T
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.L168*
c.503T>G
1 paper
NM_001014342.3
p.L168*
c.503T>A
1 paper
NM_001014342.3
p.W190*
c.569G>A
1 paper
NM_001014342.3
p.W190C
c.570G>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."