Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.H1782Q

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.H1782Q
c.5346C>G
Surrounding Variants
1 paper
NM_001014342.3
p.H1782Q
c.5346C>A
1 paper
NM_001014342.3
p.G1772R
c.5314G>C
1 paper
NM_001014342.3
p.G1772R
c.5314G>A
1 paper
NM_001014342.3
p.S1793F
c.5378C>T
1 paper
NM_001014342.3
p.S1800*
c.5399C>G
1 paper
NM_001014342.3
p.S1800*
c.5399C>A
1 paper
NM_001014342.3
p.E1805D
c.5415G>T
1 paper
NM_001014342.3
p.E1805D
c.5415G>C
1 paper
NM_001014342.3
p.G1739_H1749delins
c.5217_5247delinsGTTCTCACAAAGACCACACTCACGAGAACACACTTAC
1 paper
NM_001014342.3
p.T1825fs
c.5473_5474fs
1 paper
NM_001014342.3
p.G1739E
c.5216G>A
1 paper
NM_001014342.3
p.H1826H
c.5478C>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."