Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.L69F

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.L69F
c.207A>T
Surrounding Variants
1 paper
NM_138554.5
p.L69F
c.207A>C
1 paper
NM_138554.5
p.G70A
c.209G>C
1 paper
NM_138554.5
p.G70G
c.210C>G
1 paper
NM_138554.5
p.H68Y
c.202C>T
1 paper
NM_138554.5
p.H68_G70del3
c.202_209del9
5 papers
NM_138554.5
p.S73R
c.217A>C
1 paper
NM_138554.5
p.L66Q
c.197T>A
1 paper
NM_138554.5
p.L66_R67insG
c.196_200ins3
1 paper
NM_138554.5
p.L66L
c.196C>T
5 papers
NM_138554.5
p.S73R
c.219C>A
5 papers
NM_138554.5
p.S73R
c.219C>G
1 paper
NM_138554.5
p.P65A
c.193C>G
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