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.G176R

c.526G>C

Surrounding Variants

1 paper

NM_003263.4

p.G176R

c.526G>A

1 paper

NM_003263.4

p.Y175Y

c.525T>C

1 paper

NM_003263.4

p.G176E

c.527G>A

1 paper

NM_003263.4

p.Y175S

c.524A>C

1 paper

NM_003263.4

p.E173K

c.517G>A

1 paper

NM_003263.4

p.E179D

c.537A>C

3 papers

NM_003263.4

p.D180H

c.538G>C

1 paper

NM_003263.4

p.L171L

c.511T>C

1 paper

NM_003263.4

p.V170V

c.510C>T

1 paper

NM_003263.4

p.V170A

c.509T>C

1 paper

NM_003263.4

p.V170L

c.508G>C

1 paper

NM_003263.4

p.L168F

c.504G>T