Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.S2240S

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.S2240S
c.6720C>T
Surrounding Variants
1 paper
NM_001014342.3
p.R2243T
c.6728G>C
1 paper
NM_001014342.3
p.G2252fs
c.6754_6755fs
1 paper
NM_001014342.3
p.H2216L
c.6647A>T
1 paper
NM_001014342.3
p.S2214*
c.6641C>G
1 paper
NM_001014342.3
p.S2214*
c.6641C>A
1 paper
NM_001014342.3
p.R2207Q
c.6620G>A
1 paper
NM_001014342.3
p.R2207*
c.6619C>T
1 paper
NM_001014342.3
p.G2205R
c.6613G>C
1 paper
NM_001014342.3
p.G2205R
c.6613G>A
1 paper
NM_001014342.3
p.Q2203delFs
c.6607delG
1 paper
NM_001014342.3
p.A2279T
c.6835G>A
1 paper
NM_001014342.3
p.T2200_H2201delFs
c.6600_6603del4
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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."