Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.V1840F

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.V1840F
c.5518G>T
Surrounding Variants
1 paper
NM_001014342.3
p.S1838S
c.5514C>T
2 papers
NM_001014342.3
p.T1825_H1826delFs
c.5475_5478del4
1 paper
NM_001014342.3
p.H1826H
c.5478C>T
1 paper
NM_001014342.3
p.T1825fs
c.5473_5474fs
1 paper
NM_001014342.3
p.Q1859P
c.5576A>C
1 paper
NM_001014342.3
p.Q1867*
c.5599C>T
1 paper
NM_001014342.3
p.S1868L
c.5603C>T
1 paper
NM_001014342.3
p.S1870P
c.5608T>C
1 paper
NM_001014342.3
p.E1805D
c.5415G>T
1 paper
NM_001014342.3
p.E1805D
c.5415G>C
1 paper
NM_001014342.3
p.S1878Y
c.5633C>A
1 paper
NM_001014342.3
p.S1800*
c.5399C>G
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