Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.Q683K

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.Q683K
c.2047C>A
Surrounding Variants
1 paper
NM_138554.5
p.D684E
c.2052T>A
1 paper
NM_138554.5
p.D684E
c.2052T>G
1 paper
NM_138554.5
p.I679T
c.2036T>C
1 paper
NM_138554.5
p.I679V
c.2035A>G
1 paper
NM_138554.5
p.W687G
c.2059T>G
1 paper
NM_138554.5
p.R689delFs
c.2067delG
1 paper
NM_138554.5
p.A676A
c.2028C>A
2 papers
NM_138554.5
p.A676A
c.2028C>T
1 paper
NM_138554.5
p.R689K
c.2066G>A
1 paper
NM_138554.5
p.A676G
c.2027C>G
1 paper
NM_138554.5
p.D675D
c.2025T>C
1 paper
NM_138554.5
p.D675N
c.2023G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."