Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.M58_D70del13

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.M58_D70del13
c.172_209del39
Surrounding Variants
1 paper
NM_001014342.3
p.D70Y
c.208G>T
1 paper
NM_001014342.3
p.D66Y
c.196G>T
2 papers
NM_001014342.3
p.M77I
c.231G>T
2 papers
NM_001014342.3
p.M77I
c.231G>C
2 papers
NM_001014342.3
p.M77I
c.231G>A
1 paper
NM_001014342.3
p.I78T
c.233T>C
1 paper
NM_001014342.3
p.M60_L61insAGC
c.178_182ins9
1 paper
NM_001014342.3
p.D50_V54del5
c.148_161del15
1 paper
NM_001014342.3
p.P48L
c.143C>T
1 paper
NM_001014342.3
p.P48Fs
c.143delinsTTFs
1 paper
NM_001014342.3
p.P48S
c.142C>T
1 paper
NM_001014342.3
p.R107Q
c.320G>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."