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

1–12 of 309 variants

58 papers

NM_138636.5

p.M1V

c.1A>G

11 papers

NM_138636.5

p.D43E

c.129C>G

9 papers

NM_138636.5

p.P432L

c.1295C>T

8 papers

NM_138636.5

p.M10V

c.28A>G

5 papers

NM_138636.5

p.F494L

c.1482C>A

5 papers

NM_138636.5

p.D543A

c.1628A>C

4 papers

NM_138636.5

p.H450H

c.1350T>C

4 papers

NM_138636.5

p.F494L

c.1480T>C

4 papers

NM_138636.5

p.F494L

c.1482C>G

4 papers

NM_138636.5

p.G572V

c.1715G>T

4 papers

NM_138636.5

p.R715Q

c.2144G>A

3 papers

NM_138636.5

p.I18V

c.52A>G