Varaico: Literature-Extracted Genetic Variants

TLR1

494 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 69–126UCSCLeucine rich repeat

LRR_8aa 445–502UCSCLeucine rich repeat

LRRCTaa 553–578UCSCLeucine rich repeat C-terminal domain

TIRaa 636–786UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 1

HGNC Alias Symbols

rsc786; KIAA0012; CD281

Papers

RefSeq ID

Protein change

DNA change

1–12 of 696 variants

125 papers

NM_003263.4

p.N248S

c.743A>G

79 papers

NM_003263.4

p.S602I

c.1805G>T

65 papers

NM_003263.4

p.R80T

c.239G>C

34 papers

NM_003263.4

p.H305L

c.914A>T

22 papers

NM_003263.4

p.P315L

c.944C>T

13 papers

NM_003263.4

p.R753K

c.2258G>A

10 papers

NM_003263.4

p.I57M

c.171A>G

9 papers

NM_003263.4

p.H118Y

c.352C>T

9 papers

NM_003263.4

p.P733L

c.2198C>T

8 papers

NM_003263.4

p.S44P

c.130T>C

8 papers

NM_003263.4

p.L450L

c.1350T>C

7 papers

NM_003263.4

p.L144P

c.431T>C