Varaico: Literature-Extracted Genetic Variants

Gene:FLG2
Variant:p.R1342K

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.R1342K
c.4025G>A
Surrounding Variants
1 paper
NM_001014342.3
p.T1339I
c.4016C>T
1 paper
NM_001014342.3
p.V1359G
c.4076T>G
2 papers
NM_001014342.3
p.H1324Q
c.3972T>G
2 papers
NM_001014342.3
p.H1324Q
c.3972T>A
1 paper
NM_001014342.3
p.D1320V
c.3959A>T
3 papers
NM_001014342.3
p.T1314fs
c.3940_3941fs
1 paper
NM_001014342.3
p.H1370Y
c.4108C>T
1 paper
NM_001014342.3
p.T1314insFs
c.3940_3941insTA
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.S1298C
c.3893C>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."