Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.R612G

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.R612G
c.1834A>G
Surrounding Variants
2 papers
NM_001014342.3
p.S617S
c.1851T>C
1 paper
NM_001014342.3
p.G605S
c.1813G>A
2 papers
NM_001014342.3
p.G597G
c.1791G>T
1 paper
NM_001014342.3
p.H596R
c.1787A>G
1 paper
NM_001014342.3
p.G594E
c.1781G>A
1 paper
NM_001014342.3
p.Y631C
c.1892A>G
1 paper
NM_001014342.3
p.G592S
c.1774G>A
1 paper
NM_001014342.3
p.S585S
c.1755G>A
2 papers
NM_001014342.3
p.S585L
c.1754C>T
1 paper
NM_001014342.3
p.Y583C
c.1748A>G
1 paper
NM_001014342.3
p.G646R
c.1936G>C
1 paper
NM_001014342.3
p.G646R
c.1936G>A
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."