Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.H1370Y

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.H1370Y
c.4108C>T
Surrounding Variants
1 paper
NM_001014342.3
p.V1359G
c.4076T>G
1 paper
NM_001014342.3
p.S1382F
c.4145C>T
1 paper
NM_001014342.3
p.S1382delins
c.4145_4146delinsTT
1 paper
NM_001014342.3
p.V1384D
c.4151T>A
1 paper
NM_001014342.3
p.R1342K
c.4025G>A
1 paper
NM_001014342.3
p.T1339I
c.4016C>T
1 paper
NM_001014342.3
p.G1402C
c.4204G>T
1 paper
NM_001014342.3
p.G1402A
c.4205G>C
1 paper
NM_001014342.3
p.G1413E
c.4238G>A
1 paper
NM_001014342.3
p.G1413delFs
c.4239delC
1 paper
NM_001014342.3
p.S1414fs
c.4240_4241fs
2 papers
NM_001014342.3
p.H1324Q
c.3972T>G
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