Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.S755C

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_016610.4
p.S755C
c.2263A>T
Surrounding Variants
1 paper
NM_138636.5
p.S737T
c.2210G>C
1 paper
NM_138636.5
p.H740Y
c.2218C>T
2 papers
NM_138636.5
p.S733F
c.2198C>T
1 paper
NM_138636.5
p.G730D
c.2189G>A
1 paper
NM_138636.5
p.P728T
c.2182C>A
1 paper
NM_138636.5
p.P728delFs
c.2184delC
1 paper
NM_138636.5
p.I724N
c.2171T>A
2 papers
NM_138636.5
p.R723G
c.2167A>G
1 paper
NM_138636.5
p.I751F
c.2251A>T
1 paper
NM_138636.5
p.I751I
c.2253C>A
1 paper
NM_138636.5
p.K753R
c.2258A>G
1 paper
NM_138636.5
p.S754C
c.2261C>G
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