Varaico: Literature-Extracted Genetic Variants

Gene:TLR2
Variant:p.F522C

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.F522C
c.1565T>G
Surrounding Variants
1 paper
NM_001318789.2
p.D520D
c.1560C>T
1 paper
NM_001318789.2
p.L525L
c.1573C>T
1 paper
NM_001318789.2
p.L528L
c.1584G>A
1 paper
NM_001318789.2
p.G531S
c.1591G>A
1 paper
NM_001318789.2
p.T513M
c.1538C>T
1 paper
NM_001318789.2
p.T513A
c.1537A>G
1 paper
NM_001318789.2
p.I536T
c.1607T>C
1 paper
NM_001318789.2
p.C537Y
c.1610G>A
2 papers
NM_001318789.2
p.K505Q
c.1513A>C
2 papers
NM_001318789.2
p.F541F
c.1623C>T
1 paper
NM_001318789.2
p.L542I
c.1624C>A
2 papers
NM_001318789.2
p.L542L
c.1626C>G
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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."