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.S298S

c.894C>T

Surrounding Variants

4 papers

NM_003263.4

p.S298F

c.893C>T

1 paper

NM_003263.4

p.L302F

c.906G>T

1 paper

NM_003263.4

p.L302F

c.906G>C

1 paper

NM_003263.4

p.H305Y

c.913C>T

4 papers

NM_003263.4

p.F292I

c.874T>A

34 papers

NM_003263.4

p.H305L

c.914A>T

1 paper

NM_003263.4

p.H305P

c.914A>C

1 paper

NM_003263.4

p.H305H

c.915C>T

1 paper

NM_003263.4

p.R290I

c.869G>T

1 paper

NM_003263.4

p.V307I

c.919G>A

1 paper

NM_003263.4

p.F289L

c.867C>G

1 paper

NM_003263.4

p.F289L

c.867C>A