Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.P450P

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
5 papers
NM_017442.4
p.P450P
c.1350T>C
Surrounding Variants
1 paper
NM_017442.4
p.P450S
c.1348C>T
1 paper
NM_017442.4
p.D452E
c.1356C>G
1 paper
NM_017442.4
p.D452E
c.1356C>A
1 paper
NM_017442.4
p.W447*
c.1340G>A
1 paper
NM_017442.4
p.P455S
c.1363C>T
1 paper
NM_017442.4
p.P455P
c.1365G>A
1 paper
NM_017442.4
p.P457S
c.1369C>T
2 papers
NM_017442.4
p.D459D
c.1377C>T
1 paper
NM_017442.4
p.T434I
c.1301C>T
1 paper
NM_017442.4
p.R467R
c.1401G>A
1 paper
NM_017442.4
p.C470Y
c.1409G>A
1 paper
NM_017442.4
p.S480P
c.1438T>C
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