Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.Q743H

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.Q743H
c.2229G>T
Surrounding Variants
1 paper
NM_138554.5
p.Q743H
c.2229G>C
1 paper
NM_138554.5
p.Q743L
c.2228A>T
2 papers
NM_138554.5
p.R745H
c.2234G>A
2 papers
NM_138554.5
p.W746C
c.2238G>C
2 papers
NM_138554.5
p.W746C
c.2238G>T
3 papers
NM_138554.5
p.C747S
c.2239T>A
1 paper
NM_138554.5
p.H740N
c.2218C>A
1 paper
NM_138554.5
p.H740Y
c.2218C>T
3 papers
NM_138554.5
p.C747S
c.2240G>C
1 paper
NM_138554.5
p.F749L
c.2245T>C
1 paper
NM_138554.5
p.F749L
c.2247T>A
1 paper
NM_138554.5
p.F749L
c.2247T>G
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