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

1 paper

NM_003263.4

p.F289L

c.867C>G

Surrounding Variants

1 paper

NM_003263.4

p.F289L

c.867C>A

1 paper

NM_003263.4

p.F289L

c.865T>C

1 paper

NM_003263.4

p.R290I

c.869G>T

1 paper

NM_003263.4

p.D288A

c.863A>C

4 papers

NM_003263.4

p.F292I

c.874T>A

2 papers

NM_003263.4

p.L287M

c.859C>A

1 paper

NM_003263.4

p.G285D

c.854G>A

1 paper

NM_003263.4

p.G285S

c.853G>A

1 paper

NM_003263.4

p.Q284*

c.850C>T

1 paper

NM_003263.4

p.L283P

c.848T>C

1 paper

NM_003263.4

p.V281M

c.841G>A

4 papers

NM_003263.4

p.S298F

c.893C>T