Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.E605*

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.E605*
c.1813G>T
Surrounding Variants
1 paper
NM_138554.5
p.E605K
c.1813G>A
1 paper
NM_138554.5
p.E603D
c.1809A>C
1 paper
NM_138554.5
p.E603D
c.1809A>T
1 paper
NM_138554.5
p.R606Q
c.1817G>A
4 papers
NM_138554.5
p.E603K
c.1807G>A
1 paper
NM_138554.5
p.V602G
c.1805T>G
1 paper
NM_138557.3
p.C409_A410insFs
c.1227_1228dupTG
1 paper
NM_138554.5
p.C609R
c.1825T>C
1 paper
NM_138554.5
p.L600H
c.1799T>A
2 papers
NM_138554.5
p.A610V
c.1829C>T
2 papers
NM_138554.5
p.T611A
c.1831A>G
1 paper
NM_138554.5
p.R598K
c.1793G>A
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