Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.N3H

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.N3H
c.7A>C
Surrounding Variants
1 paper
NM_138636.5
p.E2E
c.6A>G
2 papers
NM_138636.5
p.N3I
c.8A>T
1 paper
NM_138636.5
p.M4V
c.10A>G
1 paper
NM_138636.5
p.E2ins0
c.4_6dupGAA
1 paper
NM_138636.5
p.Q7L
c.20A>T
1 paper
NM_138636.5
p.S8L
c.23C>T
1 paper
NM_138636.5
p.S9S
c.27A>C
8 papers
NM_138636.5
p.M10V
c.28A>G
1 paper
NM_138636.5
p.L11L
c.33G>C
1 paper
NM_138636.5
p.L11L
c.33G>T
1 paper
NM_138636.5
p.C13R
c.37T>C
1 paper
NM_138636.5
p.C13G
c.37T>G
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