Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.G27S

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.G27S
c.79G>A
Surrounding Variants
1 paper
NM_017442.4
p.T23delFs
c.68delG
1 paper
NM_017442.4
p.L24L
c.70C>T
1 paper
NM_017442.4
p.F32S
c.95T>C
1 paper
NM_017442.4
p.P34S
c.100C>T
1 paper
NM_017442.4
p.P34P
c.102C>T
1 paper
NM_017442.4
p.I18T
c.53T>C
1 paper
NM_017442.4
p.H40H
c.120C>T
1 paper
NM_017442.4
p.L11L
c.31C>T
2 papers
NM_017442.4
p.V43V
c.129G>C
1 paper
NM_017442.4
p.P10S
c.28C>T
1 paper
NM_017442.4
p.N46T
c.137A>C
3 papers
NM_017442.4
p.R5C
c.13C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."