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

Selected Variant

8 papers

NM_003263.4

p.S44P

c.130T>C

Surrounding Variants

1 paper

NM_003263.4

p.S44T

c.130T>A

1 paper

NM_003263.4

p.S44S

c.132C>G

1 paper

NM_003263.4

p.Q45R

c.134A>G

1 paper

NM_003263.4

p.D42G

c.125A>G

1 paper

NM_003263.4

p.K41K

c.123A>G

1 paper

NM_003263.4

p.T47A

c.139A>G

1 paper

NM_003263.4

p.K41E

c.121A>G

1 paper

NM_003263.4

p.T47P

c.139A>C

1 paper

NM_003263.4

p.P40L

c.119C>T

1 paper

NM_003263.4

p.P40insFs

c.118_119insA

1 paper

NM_003263.4

p.T48A

c.142A>G

1 paper

NM_003263.4

p.T48P

c.142A>C