Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.L591L

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.L591L
c.1773G>T
Surrounding Variants
1 paper
NM_138554.5
p.Q592R
c.1775A>G
1 paper
NM_138554.5
p.F590L
c.1770C>G
1 paper
NM_138554.5
p.W593*
c.1778G>A
1 paper
NM_138554.5
p.W593*
c.1779G>A
1 paper
NM_138554.5
p.I594I
c.1782C>T
1 paper
NM_138554.5
p.Q588Q
c.1764G>A
1 paper
NM_138554.5
p.Q597E
c.1789C>G
1 paper
NM_138554.5
p.Q597H
c.1791G>C
1 paper
NM_138554.5
p.R598K
c.1793G>A
1 paper
NM_138554.5
p.C585R
c.1753T>C
1 paper
NM_138554.5
p.T584S
c.1751C>G
1 paper
NM_138554.5
p.T584S
c.1750A>T
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