Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.E578A

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.E578A
c.1733A>C
Surrounding Variants
1 paper
NM_138636.5
p.E578G
c.1733A>G
1 paper
NM_138636.5
p.F583L
c.1749C>A
1 paper
NM_138636.5
p.F583F
c.1749C>T
1 paper
NM_138636.5
p.V573I
c.1717G>A
3 papers
NM_138636.5
p.G572D
c.1715G>A
4 papers
NM_138636.5
p.G572V
c.1715G>T
1 paper
NM_138636.5
p.N585D
c.1753A>G
1 paper
NM_138636.5
p.F568S
c.1703T>C
1 paper
NM_138636.5
p.Y567*
c.1701T>A
1 paper
NM_138636.5
p.Y567*
c.1701T>G
1 paper
NM_138636.5
p.L591F
c.1773G>T
1 paper
NM_138636.5
p.D560G
c.1679A>G
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