Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.G199G

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
3 papers
NM_017442.4
p.G199G
c.597C>T
Surrounding Variants
1 paper
NM_017442.4
p.G199D
c.596G>A
3 papers
NM_017442.4
p.L198M
c.592C>A
1 paper
NM_017442.4
p.H203N
c.607C>A
1 paper
NM_017442.4
p.H203H
c.609C>T
1 paper
NM_017442.4
p.L204L
c.612G>C
1 paper
NM_017442.4
p.G193S
c.577G>A
1 paper
NM_017442.4
p.A191D
c.572C>A
1 paper
NM_017442.4
p.V190G
c.569T>G
1 paper
NM_017442.4
p.E189E
c.567G>A
1 paper
NM_017442.4
p.L211V
c.631C>G
1 paper
NM_017442.4
p.L188V
c.562C>G
1 paper
NM_017442.4
p.N210_L211del1
c.630_632delAGG
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