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.R216H

c.647G>A

Surrounding Variants

1 paper

NM_017442.4

p.R216C

c.646C>T

1 paper

NM_017442.4

p.N217N

c.651C>T

2 papers

NM_017442.4

p.V214A

c.641T>C

1 paper

NM_017442.4

p.N210_L211del1

c.630_632delAGG

1 paper

NM_017442.4

p.S221N

c.662G>A

1 paper

NM_017442.4

p.L211V

c.631C>G

1 paper

NM_017442.4

p.E223K

c.667G>A

1 paper

NM_017442.4

p.Y224C

c.671A>G

1 paper

NM_017442.4

p.L227fs

c.679_680fs

1 paper

NM_017442.4

p.L204L

c.612G>C

1 paper

NM_017442.4

p.H203H

c.609C>T

1 paper

NM_017442.4

p.H203N

c.607C>A