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.R52H

c.155G>A

Surrounding Variants

1 paper

NM_138636.5

p.C49C

c.147C>T

1 paper

NM_138636.5

p.Q55Q

c.165G>A

1 paper

NM_138636.5

p.E56G

c.167A>G

1 paper

NM_138636.5

p.E48K

c.142G>A

1 paper

NM_138636.5

p.A47G

c.140C>G

1 paper

NM_138636.5

p.A47T

c.139G>A

1 paper

NM_138636.5

p.Q59K

c.175C>A

1 paper

NM_138636.5

p.V45F

c.133G>T

1 paper

NM_138636.5

p.T60S

c.178A>T

1 paper

NM_138636.5

p.T60K

c.179C>A

2 papers

NM_138636.5

p.T60M

c.179C>T

3 papers

NM_138636.5

p.S44P

c.130T>C