Varaico: Literature-Extracted Genetic Variants

Gene:TLR2
Variant:p.C713S

TLR2

1,316 papers

RefSeq Summary

The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved ...

Pfam Domains

LRR_8aa 76–135UCSCLeucine rich repeat
LRRCTaa 561–586UCSCLeucine rich repeat C-terminal domain
TIRaa 640–783UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 2

HGNC Alias Symbols

TIL4; CD282

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_001318789.2
p.C713S
c.2138G>C
Surrounding Variants
9 papers
NM_001318789.2
p.C713S
c.2137T>A
1 paper
NM_001318789.2
p.W712C
c.2136G>C
1 paper
NM_001318789.2
p.W712C
c.2136G>T
8 papers
NM_001318789.2
p.Y715N
c.2143T>A
1 paper
NM_001318789.2
p.Y715D
c.2143T>G
1 paper
NM_001318789.2
p.Y715*
c.2145T>A
2 papers
NM_001318789.2
p.Y715*
c.2145T>G
1 paper
NM_001318789.2
p.S710G
c.2128A>G
1 paper
NM_001318789.2
p.L717M
c.2149C>A
1 paper
NM_001318789.2
p.K709R
c.2126A>G
2 papers
NM_001318789.2
p.F707F
c.2121T>C
2 papers
NM_001318789.2
p.N706S
c.2117A>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."