Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.A2027G

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.A2027G
c.6080C>G
Surrounding Variants
1 paper
NM_001014342.3
p.A2027S
c.6079G>T
1 paper
NM_001014342.3
p.T2023N
c.6068C>A
1 paper
NM_001014342.3
p.T2023A
c.6067A>G
1 paper
NM_001014342.3
p.R2018T
c.6053G>C
4 papers
NM_001014342.3
p.H2039P
c.6116A>C
1 paper
NM_001014342.3
p.G2013E
c.6038G>A
1 paper
NM_001014342.3
p.S2010_H2012del3
c.6028_6035del9
1 paper
NM_001014342.3
p.G2008V
c.6023G>T
1 paper
NM_001014342.3
p.G2008A
c.6023G>C
1 paper
NM_001014342.3
p.R2006T
c.6017G>C
5 papers
NM_001014342.3
p.A2050T
c.6148G>A
1 paper
NM_001014342.3
p.Q2000Q
c.6000A>G
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