Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.L260P

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
2 papers
NM_138554.5
p.L260P
c.779T>C
Surrounding Variants
1 paper
NM_138554.5
p.G261E
c.782G>A
2 papers
NM_138554.5
p.L258F
c.774G>C
2 papers
NM_138554.5
p.L258F
c.774G>T
1 paper
NM_138554.5
p.E262G
c.785A>G
1 paper
NM_138554.5
p.L258L
c.772T>C
2 papers
NM_138554.5
p.R257C
c.769C>T
1 paper
NM_138554.5
p.R264*
c.790A>T
2 papers
NM_138554.5
p.V255V
c.765C>G
1 paper
NM_138554.5
p.E254E
c.762A>G
1 paper
NM_138554.5
p.E266K
c.796G>A
1 paper
NM_138554.5
p.E254K
c.760G>A
3 papers
NM_138554.5
p.G267E
c.800G>A
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