Varaico: Literature-Extracted Genetic Variants

Gene:TLR2
Variant:p.C353*

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
2 papers
NM_001318789.2
p.C353*
c.1059T>A
Surrounding Variants
1 paper
NM_001318789.2
p.L355L
c.1065T>C
1 paper
NM_001318789.2
p.S356*
c.1067C>A
1 paper
NM_001318789.2
p.S356*
c.1067C>G
1 paper
NM_001318789.2
p.F349L
c.1047T>G
1 paper
NM_001318789.2
p.V348V
c.1044T>C
1 paper
NM_001318789.2
p.L359V
c.1075T>G
2 papers
NM_001318789.2
p.K347E
c.1039A>G
1 paper
NM_001318789.2
p.S361S
c.1083A>G
2 papers
NM_001318789.2
p.N345S
c.1034A>G
1 paper
NM_001318789.2
p.T342I
c.1025C>T
1 paper
NM_001318789.2
p.L367F
c.1099C>T
1 paper
NM_001318789.2
p.L367delFs
c.1100delT
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."