Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.Q1572H

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.Q1572H
c.4716G>T
Surrounding Variants
1 paper
NM_001014342.3
p.Q1572H
c.4716G>C
1 paper
NM_001014342.3
p.T1574S
c.4720A>T
1 paper
NM_001014342.3
p.T1574S
c.4721C>G
1 paper
NM_001014342.3
p.R1567S
c.4701G>T
1 paper
NM_001014342.3
p.R1567S
c.4701G>C
1 paper
NM_001014342.3
p.G1565E
c.4694G>A
1 paper
NM_001014342.3
p.Q1563*
c.4687C>T
1 paper
NM_001014342.3
p.H1558Q
c.4674T>G
1 paper
NM_001014342.3
p.H1558Q
c.4674T>A
1 paper
NM_001014342.3
p.G1588D
c.4763G>A
2 papers
NM_001014342.3
p.R1595*
c.4783C>T
1 paper
NM_001014342.3
p.G1600S
c.4798G>A
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