Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.M1V

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
58 papers
NM_138636.5
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_138636.5
p.M1delFs
c.2delT
1 paper
NM_138636.5
p.M1delFs
c.1delA
1 paper
NM_138636.5
p.M1I
c.3G>A
2 papers
NM_016610.4
p.M1V
c.1A>G
1 paper
NM_016610.4
p.K18E
c.52A>G
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