Varaico: Literature-Extracted Genetic Variants

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.L520V

c.1558C>G

Surrounding Variants

1 paper

NM_017442.4

p.G514D

c.1541G>A

1 paper

NM_017442.4

p.G514S

c.1540G>A

1 paper

NM_017442.4

p.L526L

c.1576C>T

1 paper

NM_017442.4

p.A511T

c.1531G>A

2 papers

NM_017442.4

p.Q510H

c.1530G>T

2 papers

NM_017442.4

p.Q510H

c.1530G>C

2 papers

NM_017442.4

p.S509S

c.1527G>A

1 paper

NM_017442.4

p.K532K

c.1596G>A

1 paper

NM_017442.4

p.L533P

c.1598T>C

1 paper

NM_017442.4

p.D534A

c.1601A>C

1 paper

NM_017442.4

p.Y536*

c.1608C>G

1 paper

NM_017442.4

p.Y536*

c.1608C>A