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.L730H

c.2189T>A

Surrounding Variants

1 paper

NM_017442.4

p.R728*

c.2182C>T

1 paper

NM_017442.4

p.A734T

c.2200G>A

2 papers

NM_017442.4

p.K725N

c.2175G>T

2 papers

NM_017442.4

p.K725N

c.2175G>C

1 paper

NM_017442.4

p.A717delFs

c.2149delC

1 paper

NM_017442.4

p.S750G

c.2248A>G

1 paper

NM_017442.4

p.S709S

c.2127C>T

1 paper

NM_017442.4

p.R704W

c.2110C>T

1 paper

NM_017442.4

p.L703_R704insFs

c.2109_2110ins5

1 paper

NM_017442.4

p.R702Q

c.2105G>A

17 papers

NM_017442.4

p.R702W

c.2104C>T

1 paper

NM_017442.4

p.A691T

c.2071G>A