Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.C98S

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.C98S
c.292T>A
Surrounding Variants
1 paper
NM_017442.4
p.C98S
c.293G>C
2 papers
NM_017442.4
p.P99A
c.295C>G
12 papers
NM_017442.4
p.P99L
c.296C>T
2 papers
NM_017442.4
p.P100A
c.298C>G
1 paper
NM_017442.4
p.P100L
c.299C>T
1 paper
NM_017442.4
p.G102A
c.305G>C
1 paper
NM_017442.4
p.P105P
c.315C>T
1 paper
NM_017442.4
p.L89M
c.265C>A
2 papers
NM_017442.4
p.P87L
c.260C>T
2 papers
NM_017442.4
p.P109A
c.325C>G
1 paper
NM_017442.4
p.P109L
c.326C>T
1 paper
NM_017442.4
p.C110S
c.328T>A
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