Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.N205H

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.N205H
c.613A>C
Surrounding Variants
3 papers
NM_138554.5
p.N205D
c.613A>G
1 paper
NM_138554.5
p.N205S
c.614A>G
1 paper
NM_138554.5
p.S207delFs
c.620_621delCT
1 paper
NM_138554.5
p.L204L
c.612C>A
5 papers
NM_138554.5
p.L204H
c.611T>A
1 paper
NM_138554.5
p.L204F
c.610C>T
2 papers
NM_138554.5
p.L203I
c.607C>A
1 paper
NM_138554.5
p.Q200H
c.600A>C
2 papers
NM_138554.5
p.D209E
c.627C>A
1 paper
NM_138554.5
p.L210M
c.628C>A
9 papers
NM_138554.5
p.H199H
c.597T>C
1 paper
NM_138554.5
p.L212_P214delFs
c.636_642del7
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."