Varaico: Literature-Extracted Genetic Variants

TLR8

232 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 276–323UCSCLeucine rich repeat

LRR_8aa 639–700UCSCLeucine rich repeat

LRR_8aa 712–774UCSCLeucine rich repeat

TIRaa 879–1039UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 8

HGNC Alias Symbols

CD288; hTLR8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138636.5

p.D37insFs

c.110_111insC

Surrounding Variants

1 paper

NM_138636.5

p.S33G

c.97A>G

1 paper

NM_138636.5

p.N42S

c.125A>G

11 papers

NM_138636.5

p.D43E

c.129C>G

3 papers

NM_138636.5

p.S44P

c.130T>C

1 paper

NM_138636.5

p.V45F

c.133G>T

1 paper

NM_138636.5

p.E28E

c.84A>G

1 paper

NM_138636.5

p.E28Q

c.82G>C

1 paper

NM_138636.5

p.A47T

c.139G>A

1 paper

NM_138636.5

p.A47G

c.140C>G

1 paper

NM_138636.5

p.A26A

c.78C>T

1 paper

NM_138636.5

p.E48K

c.142G>A

1 paper

NM_138636.5

p.A26S

c.76G>T