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.W1006insFs

c.3016_3017insC

Surrounding Variants

3 papers

NM_017442.4

p.A1007insFs

c.3020_3021insC

1 paper

NM_017442.4

p.Q1008H

c.3024G>T

1 paper

NM_017442.4

p.Q1008H

c.3024G>C

1 paper

NM_017442.4

p.A1012S

c.3034G>T

1 paper

NM_017442.4

p.A1012G

c.3035C>G

1 paper

NM_017442.4

p.N1017S

c.3050A>G

1 paper

NM_017442.4

p.V992I

c.2974G>A

1 paper

NM_017442.4

p.Q990Q

c.2970G>A

1 paper

NM_017442.4

p.R989H

c.2966G>A

1 paper

NM_017442.4

p.C988*

c.2964C>A

1 paper

NM_017442.4

p.Y980Y

c.2940C>T

2 papers

NM_017442.4

p.Y980F

c.2939A>T