Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.Y398*

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.Y398*
c.1194T>G
Surrounding Variants
1 paper
NM_001014342.3
p.Y398*
c.1194T>A
1 paper
NM_001014342.3
p.E412A
c.1235A>C
1 paper
NM_001014342.3
p.C380S
c.1139G>C
1 paper
NM_001014342.3
p.G420R
c.1258G>A
1 paper
NM_001014342.3
p.S374L
c.1121C>T
1 paper
NM_001014342.3
p.E430K
c.1288G>A
1 paper
NM_001014342.3
p.H432D
c.1294C>G
1 paper
NM_001014342.3
p.Y355*
c.1065T>G
1 paper
NM_001014342.3
p.Y355*
c.1065T>A
1 paper
NM_001014342.3
p.F442L
c.1324T>C
1 paper
NM_001014342.3
p.Y355C
c.1064A>G
1 paper
NM_001014342.3
p.F442L
c.1326C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."