Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.P677S

TLR9

557 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 51–98UCSCLeucine rich repeat
LRR_8aa 285–345UCSCLeucine rich repeat
LRR_12aa 393–422UCSCLeucine-rich repeat
LRR_8aa 701–762UCSCLeucine rich repeat
TIRaa 870–1026UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 9

HGNC Alias Symbol

CD289

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017442.4
p.P677S
c.2029C>T
Surrounding Variants
2 papers
NM_017442.4
p.L673V
c.2017C>G
1 paper
NM_017442.4
p.S672I
c.2015G>T
1 paper
NM_017442.4
p.L682L
c.2046C>T
1 paper
NM_017442.4
p.W670R
c.2008T>C
1 paper
NM_017442.4
p.W670R
c.2008T>A
1 paper
NM_017442.4
p.G686E
c.2057G>A
1 paper
NM_017442.4
p.F667L
c.2001C>G
1 paper
NM_017442.4
p.F667L
c.2001C>A
1 paper
NM_017442.4
p.F667L
c.1999T>C
1 paper
NM_017442.4
p.Y664Y
c.1992C>T
1 paper
NM_017442.4
p.A691T
c.2071G>A
17 papers
NM_017442.4
p.R702W
c.2104C>T
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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."