Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.E287G

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.E287G
c.860A>G
Surrounding Variants
1 paper
NM_138554.5
p.F288I
c.862T>A
2 papers
NM_138554.5
p.E286G
c.857A>G
1 paper
NM_138554.5
p.E286V
c.857A>T
1 paper
NM_138554.5
p.R289delFs
c.865delC
1 paper
NM_138554.5
p.R289*
c.865C>T
4 papers
NM_138554.5
p.R289Q
c.866G>A
1 paper
NM_138554.5
p.L290*
c.869T>A
5 papers
NM_138554.5
p.L290S
c.869T>C
NM_003266.4
p.L250S
c.749T>C
1 paper
NM_138554.5
p.L290*
c.869T>G
10 papers
NM_138554.5
p.Y292N
c.874T>A
1 paper
NM_138554.5
p.Y292D
c.874T>G
2 papers
NM_138554.5
p.N282S
c.845A>G
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