Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.M400I

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.M400I
c.1200G>A
Surrounding Variants
3 papers
NM_017442.4
p.M400I
c.1200G>T
3 papers
NM_017442.4
p.M400I
c.1200G>C
1 paper
NM_017442.4
p.R397C
c.1189C>T
1 paper
NM_017442.4
p.N404I
c.1211A>T
1 paper
NM_017442.4
p.L396L
c.1186C>T
1 paper
NM_017442.4
p.M392I
c.1176G>T
1 paper
NM_017442.4
p.M392I
c.1176G>C
1 paper
NM_017442.4
p.M392I
c.1176G>A
19 papers
NM_017442.4
p.M392V
c.1174A>G
1 paper
NM_017442.4
p.F411F
c.1233C>T
1 paper
NM_017442.4
p.R385W
c.1153C>T
1 paper
NM_017442.4
p.G416G
c.1248C>T
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