Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.G279D

TLR4

2,554 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 55–114UCSCLeucine rich repeat
LRR_8aa 55–114UCSCLeucine rich repeat
LRR_4aa 150–197UCSCLeucine Rich repeats (2 copies)
LRR_4aa 150–197UCSCLeucine Rich repeats (2 copies)
LRR_8aa 447–508UCSCLeucine rich repeat
LRR_8aa 447–508UCSCLeucine rich repeat

Gene Aliases

HGNC Name

toll like receptor 4

HGNC Alias Symbols

hToll; CD284; TLR-4; ARMD10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138554.5
p.G279D
c.836G>A
Surrounding Variants
3 papers
NM_138554.5
p.L280M
c.838C>A
1 paper
NM_138554.5
p.L277L
c.831A>T
10 papers
NM_138554.5
p.C281Y
c.842G>A
1 paper
NM_138554.5
p.C281C
c.843C>T
2 papers
NM_138554.5
p.N282S
c.845A>G
1 paper
NM_138554.5
p.A276T
c.826G>A
1 paper
NM_138554.5
p.S275A
c.823T>G
2 papers
NM_138554.5
p.K274N
c.822A>C
2 papers
NM_138554.5
p.K274N
c.822A>T
5 papers
NM_138554.5
p.D273D
c.819C>T
2 papers
NM_138554.5
p.E286G
c.857A>G
1 paper
NM_138554.5
p.E286V
c.857A>T
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