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.S212S

c.636T>G

Surrounding Variants

1 paper

NM_138636.5

p.N211D

c.631A>G

1 paper

NM_138636.5

p.H215H

c.645C>T

1 paper

NM_138636.5

p.S207delFs

c.620_621delCA

1 paper

NM_138636.5

p.L205M

c.613T>A

1 paper

NM_138636.5

p.E204E

c.612G>A

1 paper

NM_138636.5

p.L203L

c.609G>A

1 paper

NM_138636.5

p.N202D

c.604A>G

1 paper

NM_138636.5

p.T201insFs

c.603dupA

1 paper

NM_138636.5

p.L227fs

c.679_680fs

1 paper

NM_138636.5

p.L227P

c.680T>C

1 paper

NM_138636.5

p.S238_L250delFs

c.713_750del38

1 paper

NM_138636.5

p.K189E

c.565A>G