Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.I1624T

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.I1624T
c.4871T>C
Surrounding Variants
2 papers
NM_001014342.3
p.H1630L
c.4889A>T
1 paper
NM_001014342.3
p.G1618*
c.4852G>T
1 paper
NM_001014342.3
p.G1618R
c.4852G>C
1 paper
NM_001014342.3
p.G1618R
c.4852G>A
1 paper
NM_001014342.3
p.S1631A
c.4891T>G
1 paper
NM_001014342.3
p.H1617Y
c.4849C>T
1 paper
NM_001014342.3
p.H1632Y
c.4894C>T
1 paper
NM_001014342.3
p.F1611V
c.4831T>G
1 paper
NM_001014342.3
p.Q1640H
c.4920G>T
1 paper
NM_001014342.3
p.Q1640H
c.4920G>C
1 paper
NM_001014342.3
p.R1641T
c.4922G>C
1 paper
NM_001014342.3
p.G1603R
c.4807G>C
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