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.P728delFs

c.2184delC

Surrounding Variants

1 paper

NM_138636.5

p.P728T

c.2182C>A

1 paper

NM_138636.5

p.G730D

c.2189G>A

1 paper

NM_138636.5

p.I724N

c.2171T>A

2 papers

NM_138636.5

p.R723G

c.2167A>G

2 papers

NM_138636.5

p.S733F

c.2198C>T

1 paper

NM_016610.4

p.S755C

c.2263A>T

1 paper

NM_138636.5

p.S737T

c.2210G>C

1 paper

NM_138636.5

p.H740Y

c.2218C>T

4 papers

NM_138636.5

p.R715Q

c.2144G>A

1 paper

NM_138636.5

p.F710_T711delFs

c.2129_2132del4

1 paper

NM_138636.5

p.D709H

c.2125G>C

1 paper

NM_138636.5

p.S706N

c.2117G>A