Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.D175D

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.D175D
c.525C>T
Surrounding Variants
1 paper
NM_017442.4
p.F171L
c.511T>C
1 paper
NM_017442.4
p.R170H
c.509G>A
1 paper
NM_017442.4
p.A168A
c.504C>T
1 paper
NM_017442.4
p.A168V
c.503C>T
1 paper
NM_017442.4
p.P183A
c.547C>G
2 papers
NM_017442.4
p.P183R
c.548C>G
1 paper
NM_017442.4
p.L188V
c.562C>G
1 paper
NM_017442.4
p.S162G
c.484A>G
1 paper
NM_017442.4
p.E189E
c.567G>A
1 paper
NM_017442.4
p.V190G
c.569T>G
1 paper
NM_017442.4
p.A191D
c.572C>A
1 paper
NM_017442.4
p.G193S
c.577G>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."