Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.E336D

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.E336D
c.1008A>T
Surrounding Variants
1 paper
NM_138554.5
p.E336insFs
c.1007_1008insC
1 paper
NM_138554.5
p.K341R
c.1022A>G
1 paper
NM_138554.5
p.F342Y
c.1025T>A
2 papers
NM_138554.5
p.G343E
c.1028G>A
1 paper
NM_138554.5
p.Q344_K351del8
c.1030_1052del24
12 papers
NM_138554.5
p.N329S
c.986A>G
1 paper
NM_138554.5
p.Y328*
c.984T>A
1 paper
NM_138554.5
p.Y328*
c.984T>G
1 paper
NM_138554.5
p.P346H
c.1037C>A
3 papers
NM_138554.5
p.T347K
c.1040C>A
1 paper
NM_138554.5
p.F326V
c.976T>G
1 paper
NM_138554.5
p.D325Y
c.973G>T
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