Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.S950G

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
18 papers
NM_017442.4
p.S950G
c.2848A>G
Surrounding Variants
1 paper
NM_017442.4
p.S950R
c.2848A>C
2 papers
NM_017442.4
p.S950N
c.2849G>A
1 paper
NM_017442.4
p.F951S
c.2852T>C
1 paper
NM_017442.4
p.R942W
c.2824C>T
1 paper
NM_017442.4
p.E960*
c.2878G>T
2 papers
NM_017442.4
p.R962C
c.2884C>T
1 paper
NM_017442.4
p.R962H
c.2885G>A
1 paper
NM_017442.4
p.K963K
c.2889G>A
1 paper
NM_017442.4
p.D964D
c.2892C>T
1 paper
NM_017442.4
p.V965I
c.2893G>A
2 papers
NM_017442.4
p.T933M
c.2798C>T
1 paper
NM_017442.4
p.V967V
c.2901G>C
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