Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.Q423L

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.Q423L
c.1268A>T
Surrounding Variants
1 paper
NM_138554.5
p.L421L
c.1263A>G
1 paper
NM_138554.5
p.G420S
c.1258G>A
2 papers
NM_138554.5
p.L427P
c.1280T>C
1 paper
NM_138554.5
p.N417N
c.1251C>T
2 papers
NM_138554.5
p.S416*
c.1247C>A
2 papers
NM_138554.5
p.S416*
c.1247C>G
1 paper
NM_138554.5
p.S416A
c.1246T>G
1 paper
NM_138554.5
p.S432Y
c.1295C>A
1 paper
NM_138554.5
p.S432S
c.1296C>T
2 papers
NM_138554.5
p.N433T
c.1298A>C
1 paper
NM_138554.5
p.I412I
c.1236T>C
1 paper
NM_138554.5
p.I412F
c.1234A>T
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