Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.R454Q

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.R454Q
c.1361G>A
Surrounding Variants
1 paper
NM_138636.5
p.S456*
c.1367C>G
4 papers
NM_138636.5
p.H450H
c.1350T>C
1 paper
NM_138636.5
p.S465L
c.1394C>T
1 paper
NM_138636.5
p.Y441H
c.1321T>C
1 paper
NM_138636.5
p.F470L
c.1408T>C
1 paper
NM_138636.5
p.R438R
c.1312C>A
1 paper
NM_138636.5
p.F470L
c.1410C>A
1 paper
NM_138636.5
p.F470L
c.1410C>G
1 paper
NM_138636.5
p.T437T
c.1311C>T
1 paper
NM_138636.5
p.V434L
c.1300G>C
1 paper
NM_138636.5
p.V434L
c.1300G>T
9 papers
NM_138636.5
p.P432L
c.1295C>T
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