Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.G563S

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.G563S
c.1687G>A
Surrounding Variants
1 paper
NM_017442.4
p.V564M
c.1690G>A
1 paper
NM_017442.4
p.Q562K
c.1684C>A
1 paper
NM_017442.4
p.G560A
c.1679G>C
1 paper
NM_017442.4
p.H566Y
c.1696C>T
2 papers
NM_017442.4
p.V571M
c.1711G>A
1 paper
NM_017442.4
p.D551G
c.1652A>G
1 paper
NM_017442.4
p.R575H
c.1724G>A
1 paper
NM_017442.4
p.L547_E548delFs
c.1641_1642delCC
1 paper
NM_017442.4
p.T542_L547delFs
c.1626_1639del14
1 paper
NM_017442.4
p.H579D
c.1735C>G
1 paper
NM_017442.4
p.R546L
c.1637G>T
2 papers
NM_017442.4
p.R546Q
c.1637G>A
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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."