Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.Y888*

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.Y888*
c.2664C>A
Surrounding Variants
1 paper
NM_017442.4
p.Y888*
c.2664C>G
2 papers
NM_017442.4
p.Y888F
c.2663A>T
1 paper
NM_017442.4
p.N889N
c.2667C>T
2 papers
NM_017442.4
p.R892W
c.2674C>T
3 papers
NM_017442.4
p.A882T
c.2644G>A
1 paper
NM_017442.4
p.C898*
c.2694C>A
1 paper
NM_017442.4
p.F876L
c.2628C>G
1 paper
NM_017442.4
p.F876L
c.2628C>A
1 paper
NM_017442.4
p.F876L
c.2626T>C
2 papers
NM_017442.4
p.R901H
c.2702G>A
1 paper
NM_017442.4
p.W902*
c.2705G>A
1 paper
NM_017442.4
p.W902*
c.2706G>A
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