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.L547_E548delFs

c.1641_1642delCC

Surrounding Variants

1 paper

NM_017442.4

p.T542_L547delFs

c.1626_1639del14

1 paper

NM_017442.4

p.R546L

c.1637G>T

2 papers

NM_017442.4

p.R546Q

c.1637G>A

24 papers

NM_017442.4

p.P545P

c.1635G>A

1 paper

NM_017442.4

p.D551G

c.1652A>G

1 paper

NM_017442.4

p.L544Q

c.1631T>A

1 paper

NM_017442.4

p.T542fs

c.1624_1625fs

1 paper

NM_017442.4

p.F541V

c.1621T>G

2 papers

NM_017442.4

p.H539Q

c.1617C>G

2 papers

NM_017442.4

p.H539Q

c.1617C>A

1 paper

NM_017442.4

p.Y536*

c.1608C>G

1 paper

NM_017442.4

p.Y536*

c.1608C>A