Varaico: Literature-Extracted Genetic Variants

Gene:TLR6
Variant:p.L640H

TLR6

281 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 76–133UCSCLeucine rich repeat
LRR_8aa 450–507UCSCLeucine rich repeat
LRRCTaa 558–583UCSCLeucine rich repeat C-terminal domain
TIRaa 641–796UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 6

HGNC Alias Symbol

CD286

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006068.5
p.L640H
c.1919T>A
Surrounding Variants
1 paper
NM_006068.5
p.H643R
c.1928A>G
1 paper
NM_006068.5
p.H643Q
c.1929T>G
5 papers
NM_006068.5
p.A644A
c.1932T>G
1 paper
NM_006068.5
p.P632H
c.1895C>A
3 papers
NM_006068.5
p.I631R
c.1892T>G
1 paper
NM_006068.5
p.N630S
c.1889A>G
3 papers
NM_006068.5
p.V656V
c.1968G>A
1 paper
NM_006068.5
p.S658R
c.1972A>C
1 paper
NM_006068.5
p.W621*
c.1862G>A
1 paper
NM_006068.5
p.E659G
c.1976A>G
1 paper
NM_006068.5
p.Q620*
c.1858C>T
1 paper
NM_006068.5
p.Q620K
c.1858C>A
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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."