Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.Q794K

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
3 papers
NM_003266.4
p.Q794K
c.2380C>A
NM_138554.5
p.Q834K
c.2500C>A
Surrounding Variants
1 paper
NM_138554.5
p.Q834R
c.2501A>G
1 paper
NM_138554.5
p.Q834H
c.2502G>C
1 paper
NM_138554.5
p.Q834H
c.2502G>T
1 paper
NM_138554.5
p.E835K
c.2503G>A
1 paper
NM_138554.5
p.G825E
c.2474G>A
2 papers
NM_138554.5
p.E824Q
c.2470G>C
4 papers
NM_138554.5
p.P823T
c.2467C>A
1 paper
NM_138554.5
p.S820*
c.2459C>A
1 paper
NM_138554.5
p.S820*
c.2459C>G
1 paper
NM_138554.5
p.D817A
c.2450A>C
1 paper
NM_138554.5
p.D817N
c.2449G>A
1 paper
NM_138554.5
p.A814T
c.2440G>A
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