Varaico: Literature-Extracted Genetic Variants

Gene:TLR9
Variant:p.D634A

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.D634A
c.1901A>C
Surrounding Variants
2 papers
NM_017442.4
p.G629S
c.1885G>A
1 paper
NM_017442.4
p.H641D
c.1921C>G
1 paper
NM_017442.4
p.H641Q
c.1923C>A
1 paper
NM_017442.4
p.G626S
c.1876G>A
1 paper
NM_017442.4
p.P645T
c.1933C>A
1 paper
NM_017442.4
p.R649S
c.1945C>A
1 paper
NM_017442.4
p.R649H
c.1946G>A
1 paper
NM_017442.4
p.E616*
c.1846G>T
1 paper
NM_017442.4
p.Y664Y
c.1992C>T
1 paper
NM_017442.4
p.L603M
c.1807C>A
1 paper
NM_017442.4
p.F667L
c.1999T>C
1 paper
NM_017442.4
p.F667L
c.2001C>G
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