Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.L125V

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.L125V
c.373C>G
Surrounding Variants
1 paper
NM_138554.5
p.L125Q
c.374T>A
1 paper
NM_138554.5
p.G124R
c.370G>A
1 paper
NM_138554.5
p.G124R
c.370G>C
1 paper
NM_138554.5
p.S126T
c.376T>A
1 paper
NM_138554.5
p.S123S
c.369T>C
1 paper
NM_138554.5
p.S123F
c.368C>T
1 paper
NM_138554.5
p.S127G
c.379A>G
1 paper
NM_138554.5
p.S127S
c.381T>C
1 paper
NM_138554.5
p.F122V
c.364T>G
1 paper
NM_138554.5
p.Q129R
c.386A>G
1 paper
NM_138554.5
p.G120V
c.359G>T
1 paper
NM_138554.5
p.L119M
c.355C>A
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