Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.I1941T

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.I1941T
c.5822T>C
Surrounding Variants
1 paper
NM_001014342.3
p.G1954S
c.5860G>A
1 paper
NM_001014342.3
p.Q1920L
c.5759A>T
3 papers
NM_001014342.3
p.P1964H
c.5891C>A
1 paper
NM_001014342.3
p.H1916Y
c.5746C>T
1 paper
NM_001014342.3
p.H1969Q
c.5907C>G
1 paper
NM_001014342.3
p.H1969Q
c.5907C>A
1 paper
NM_001014342.3
p.H1901_S1902delFs
c.5703_5704delTG
1 paper
NM_001014342.3
p.S1902G
c.5704A>G
2 papers
NM_001014342.3
p.H1901fs
c.5701_5702fs
1 paper
NM_001014342.3
p.T1900K
c.5699C>A
1 paper
NM_001014342.3
p.H1982Q
c.5946C>G
1 paper
NM_001014342.3
p.H1982Q
c.5946C>A
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