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

1–12 of 317 variants

139 papers

NM_017442.4

p.S496P

c.1486T>C

24 papers

NM_017442.4

p.P545P

c.1635G>A

19 papers

NM_017442.4

p.M392V

c.1174A>G

18 papers

NM_017442.4

p.S950G

c.2848A>G

17 papers

NM_017442.4

p.R702W

c.2104C>T

12 papers

NM_017442.4

p.P99L

c.296C>T

8 papers

NM_017442.4

p.R863Q

c.2588G>A

6 papers

NM_017442.4

p.M1_G2Splc

c.4-44A>G

6 papers

NM_017442.4

p.D80N

c.238G>A

5 papers

NM_017442.4

p.P450P

c.1350T>C

4 papers

NM_017442.4

p.M1V

c.1A>G

3 papers

NM_017442.4

p.R5C

c.13C>T