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.I430V

c.1288A>G

Surrounding Variants

1 paper

NM_138636.5

p.S431delFs

c.1291delT

1 paper

NM_138636.5

p.R429K

c.1286G>A

9 papers

NM_138636.5

p.P432L

c.1295C>T

1 paper

NM_138636.5

p.V434L

c.1300G>C

1 paper

NM_138636.5

p.V434L

c.1300G>T

1 paper

NM_138636.5

p.I422I

c.1266T>C

1 paper

NM_138636.5

p.T437T

c.1311C>T

1 paper

NM_138636.5

p.R438R

c.1312C>A

1 paper

NM_138636.5

p.E421E

c.1263A>G

1 paper

NM_138636.5

p.Y441H

c.1321T>C

3 papers

NM_138636.5

p.L413F

c.1237C>T

1 paper

NM_138636.5

p.F411F

c.1233C>T