Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.G2152R

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.G2152R
c.6454G>C
Surrounding Variants
1 paper
NM_001014342.3
p.G2152R
c.6454G>A
2 papers
NM_001014342.3
p.Q2159H
c.6477G>T
2 papers
NM_001014342.3
p.Q2159H
c.6477G>C
1 paper
NM_001014342.3
p.G2161C
c.6481G>T
1 paper
NM_001014342.3
p.H2162Y
c.6484C>T
1 paper
NM_001014342.3
p.A2139S
c.6415G>T
1 paper
NM_001014342.3
p.S2170F
c.6509C>T
1 paper
NM_001014342.3
p.Q2132P
c.6395A>C
1 paper
NM_001014342.3
p.G2174delFs
c.6521delC
1 paper
NM_001014342.3
p.Y2126H
c.6376T>C
1 paper
NM_001014342.3
p.S2181C
c.6541A>T
1 paper
NM_001014342.3
p.D2185N
c.6553G>A
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