Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.G373S

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.G373S
c.1117G>A
Surrounding Variants
1 paper
NM_017442.4
p.D370D
c.1110C>T
1 paper
NM_017442.4
p.R377H
c.1130G>A
1 paper
NM_017442.4
p.S378P
c.1132T>C
1 paper
NM_017442.4
p.D380N
c.1138G>A
1 paper
NM_017442.4
p.A365T
c.1093G>A
1 paper
NM_017442.4
p.E381G
c.1142A>G
1 paper
NM_017442.4
p.P358_L363delFs
c.1072_1087del16
3 papers
NM_017442.4
p.T383T
c.1149G>A
1 paper
NM_017442.4
p.R385W
c.1153C>T
1 paper
NM_017442.4
p.P358fs
c.1072_1073fs
1 paper
NM_017442.4
p.S355F
c.1064C>T
19 papers
NM_017442.4
p.M392V
c.1174A>G
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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."