Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.L838I

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.L838I
c.2512C>A
Surrounding Variants
2 papers
NM_017442.4
p.L838L
c.2514C>T
1 paper
NM_017442.4
p.G840C
c.2518G>T
1 paper
NM_017442.4
p.W841*
c.2522G>A
1 paper
NM_017442.4
p.W841*
c.2523G>A
1 paper
NM_017442.4
p.L830L
c.2490G>C
1 paper
NM_017442.4
p.L828L
c.2484G>A
2 papers
NM_017442.4
p.S822P
c.2464T>C
2 papers
NM_017442.4
p.A820T
c.2458G>A
1 paper
NM_017442.4
p.Q860R
c.2579A>G
2 papers
NM_017442.4
p.G862E
c.2585G>A
8 papers
NM_017442.4
p.R863Q
c.2588G>A
1 paper
NM_017442.4
p.D864N
c.2590G>A
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