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.K868K

c.2604A>G

Surrounding Variants

1 paper

NM_138636.5

p.S872C

c.2615C>G

1 paper

NM_138636.5

p.I884V

c.2650A>G

1 paper

NM_138636.5

p.S892F

c.2675C>T

2 papers

NM_138636.5

p.V893F

c.2677G>T

1 paper

NM_138636.5

p.T840A

c.2518A>G

1 paper

NM_138636.5

p.I898Fs

c.2693delinsTAFs

1 paper

NM_138636.5

p.C916Fs

c.2747delinsTAFs

1 paper

NM_138636.5

p.R920G

c.2758A>G

1 paper

NM_138636.5

p.K812_I814del3

c.2434_2441del9

1 paper

NM_138636.5

p.N931_L932insA

c.2791_2795ins3

1 paper

NM_138636.5

p.A804T

c.2410G>A

1 paper

NM_138636.5

p.S935S

c.2805C>T