Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.G821R

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.G821R
c.2461G>C
Surrounding Variants
1 paper
NM_001014342.3
p.G821R
c.2461G>A
1 paper
NM_001014342.3
p.F820L
c.2460T>G
1 paper
NM_001014342.3
p.F820L
c.2460T>A
1 paper
NM_001014342.3
p.F820L
c.2458T>C
1 paper
NM_001014342.3
p.G819S
c.2455G>A
4 papers
NM_001014342.3
p.A818S
c.2452G>T
1 paper
NM_001014342.3
p.A818T
c.2452G>A
1 paper
NM_001014342.3
p.S830Y
c.2489C>A
1 paper
NM_001014342.3
p.Y810H
c.2428T>C
1 paper
NM_001014342.3
p.Q835Q
c.2505G>A
1 paper
NM_001014342.3
p.S802G
c.2404A>G
1 paper
NM_001014342.3
p.Q842*
c.2524C>T
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