Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.H1249R

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
3 papers
NM_001014342.3
p.H1249R
c.3746A>G
Surrounding Variants
1 paper
NM_001014342.3
p.T1239N
c.3716C>A
1 paper
NM_001014342.3
p.H1233H
c.3699T>C
1 paper
NM_001014342.3
p.R1268*
c.3802C>T
1 paper
NM_001014342.3
p.K1283N
c.3849G>T
1 paper
NM_001014342.3
p.K1283N
c.3849G>C
1 paper
NM_001014342.3
p.S1298C
c.3893C>G
1 paper
NM_001014342.3
p.F1189L
c.3567C>G
1 paper
NM_001014342.3
p.F1189L
c.3567C>A
1 paper
NM_001014342.3
p.F1189S
c.3566T>C
1 paper
NM_001014342.3
p.F1189L
c.3565T>C
1 paper
NM_001014342.3
p.T1314insFs
c.3940_3941insTA
1 paper
NM_001014342.3
p.S1184F
c.3551C>T
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