Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.V290A

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.V290A
c.869T>C
Surrounding Variants
3 papers
NM_017442.4
p.K292*
c.874A>T
1 paper
NM_017442.4
p.R285C
c.853C>T
1 paper
NM_017442.4
p.L283P
c.848T>C
1 paper
NM_017442.4
p.L283L
c.847C>T
1 paper
NM_017442.4
p.F304V
c.910T>G
1 paper
NM_017442.4
p.P273P
c.819C>T
1 paper
NM_017442.4
p.R311*
c.931C>T
1 paper
NM_017442.4
p.R311Q
c.932G>A
1 paper
NM_017442.4
p.V312V
c.936G>C
1 paper
NM_017442.4
p.E267E
c.801G>A
1 paper
NM_017442.4
p.C265F
c.794G>T
1 paper
NM_017442.4
p.C265Y
c.794G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."