Varaico: Literature-Extracted Genetic Variants

Gene:TLR2
Variant:p.L392*

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
1 paper
NM_001318789.2
p.L392*
c.1175T>A
Surrounding Variants
1 paper
NM_001318789.2
p.L392*
c.1175T>G
2 papers
NM_001318789.2
p.L389_Q390insFs
c.1167_1168insC
1 paper
NM_001318789.2
p.S388C
c.1163C>G
1 paper
NM_001318789.2
p.Q396H
c.1188A>C
2 papers
NM_001318789.2
p.E383G
c.1148A>G
1 paper
NM_001318789.2
p.E383K
c.1147G>A
1 paper
NM_001318789.2
p.C382Y
c.1145G>A
1 paper
NM_001318789.2
p.A381S
c.1141G>T
1 paper
NM_001318789.2
p.S380L
c.1139C>T
1 paper
NM_001318789.2
p.G406_E407insFs
c.1218_1219insA
1 paper
NM_001318789.2
p.T408P
c.1222A>C
1 paper
NM_001318789.2
p.Y376F
c.1127A>T
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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."