Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.L318H

TLR8

232 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 276–323UCSCLeucine rich repeat
LRR_8aa 639–700UCSCLeucine rich repeat
LRR_8aa 712–774UCSCLeucine rich repeat
TIRaa 879–1039UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 8

HGNC Alias Symbols

CD288; hTLR8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138636.5
p.L318H
c.953T>A
Surrounding Variants
1 paper
NM_138636.5
p.F320I
c.958T>A
1 paper
NM_138636.5
p.V315V
c.945G>A
1 paper
NM_138636.5
p.Y322*
c.966T>A
1 paper
NM_138636.5
p.Y322*
c.966T>G
1 paper
NM_138636.5
p.V324V
c.972G>A
1 paper
NM_138636.5
p.G325*
c.973G>T
1 paper
NM_138636.5
p.P311insFs
c.931_932insA
1 paper
NM_138636.5
p.N309N
c.927T>C
1 paper
NM_138636.5
p.A305A
c.915C>T
1 paper
NM_138636.5
p.L333*
c.998T>G
1 paper
NM_138636.5
p.I302T
c.905T>C
1 paper
NM_138636.5
p.P337T
c.1009C>A
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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."