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.F710_T711delFs

c.2129_2132del4

Surrounding Variants

1 paper

NM_138636.5

p.D709H

c.2125G>C

1 paper

NM_138636.5

p.S706N

c.2117G>A

4 papers

NM_138636.5

p.R715Q

c.2144G>A

1 paper

NM_138636.5

p.T704T

c.2112T>A

1 paper

NM_138636.5

p.L701H

c.2102T>A

2 papers

NM_138636.5

p.R723G

c.2167A>G

1 paper

NM_138636.5

p.I724N

c.2171T>A

1 paper

NM_138636.5

p.D694D

c.2082C>T

1 paper

NM_138636.5

p.L692F

c.2076G>T

1 paper

NM_138636.5

p.P728delFs

c.2184delC

1 paper

NM_138636.5

p.P728T

c.2182C>A

1 paper

NM_138636.5

p.E691G

c.2072A>G