Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.H1054R

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.H1054R
c.3161A>G
Surrounding Variants
1 paper
NM_001014342.3
p.G1055R
c.3163G>C
1 paper
NM_001014342.3
p.G1055R
c.3163G>A
1 paper
NM_001014342.3
p.G1042R
c.3124G>C
1 paper
NM_001014342.3
p.G1042R
c.3124G>A
1 paper
NM_001014342.3
p.H1041R
c.3122A>G
1 paper
NM_001014342.3
p.S1071L
c.3212C>T
2 papers
NM_001014342.3
p.R1072S
c.3214C>A
1 paper
NM_001014342.3
p.R1072L
c.3215G>T
1 paper
NM_001014342.3
p.R1072H
c.3215G>A
1 paper
NM_001014342.3
p.Q1034fs
c.3100_3101fs
1 paper
NM_001014342.3
p.N1095S
c.3284A>G
1 paper
NM_001014342.3
p.G1097E
c.3290G>A
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