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.K51M

c.152A>T

Surrounding Variants

1 paper

NM_017442.4

p.K51K

c.153G>A

1 paper

NM_017442.4

p.K51E

c.151A>G

1 paper

NM_017442.4

p.N46T

c.137A>C

1 paper

NM_017442.4

p.M58R

c.173T>G

3 papers

NM_017442.4

p.M58I

c.174G>C

2 papers

NM_017442.4

p.V43V

c.129G>C

1 paper

NM_017442.4

p.A59fs

c.175_176fs

1 paper

NM_017442.4

p.A59delFs

c.175delC

1 paper

NM_017442.4

p.H40H

c.120C>T

1 paper

NM_017442.4

p.R62H

c.185G>A

1 paper

NM_017442.4

p.T66I

c.197C>T

1 paper

NM_017442.4

p.P34P

c.102C>T