Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.P530P

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.P530P
c.1590T>C
Surrounding Variants
1 paper
NM_138636.5
p.P530P
c.1590T>A
1 paper
NM_138636.5
p.P530P
c.1590T>G
1 paper
NM_138636.5
p.P530H
c.1589C>A
1 paper
NM_138636.5
p.I529V
c.1585A>G
1 paper
NM_138636.5
p.F526C
c.1577T>G
1 paper
NM_138636.5
p.D536A
c.1607A>C
1 paper
NM_138636.5
p.S522N
c.1565G>A
1 paper
NM_138636.5
p.S522T
c.1565G>C
1 paper
NM_138636.5
p.L521F
c.1563A>C
1 paper
NM_138636.5
p.R541G
c.1621A>G
1 paper
NM_138636.5
p.Q519*
c.1555C>T
1 paper
NM_138636.5
p.L542P
c.1625T>C
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