Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.S2377*

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
19 papers
NM_001014342.3
p.S2377*
c.7130C>A
Surrounding Variants
18 papers
NM_001014342.3
p.S2377*
c.7130C>G
1 paper
NM_001014342.3
p.I2371L
c.7111A>C
1 paper
NM_001014342.3
p.R2368K
c.7103G>A
1 paper
NM_001014342.3
p.L2388M
c.7162C>A
1 paper
NM_001014342.3
p.S2389P
c.7165T>C
1 paper
NM_001014342.3
p.G2365D
c.7094G>A
3 papers
NM_001014342.3
p.*2392S
c.7175G>C
1 paper
NM_001014342.3
p.Y2354N
c.7060T>A
1 paper
NM_001014342.3
p.Y2349N
c.7045T>A
1 paper
NM_001014342.3
p.R2337K
c.7010G>A
1 paper
NM_001014342.3
p.S2332I
c.6995G>T
1 paper
NM_001014342.3
p.Q2329*
c.6985C>T
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