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.S704R

c.2112T>G

Surrounding Variants

1 paper

NM_003263.4

p.S704R

c.2112T>A

1 paper

NM_003263.4

p.S704R

c.2110A>C

1 paper

NM_003263.4

p.W706*

c.2117G>A

1 paper

NM_003263.4

p.W706*

c.2118G>A

1 paper

NM_003263.4

p.V702insFs

c.2104_2105dupGT

2 papers

NM_003263.4

p.C707Y

c.2120G>A

1 paper

NM_003263.4

p.F701F

c.2103T>C

1 paper

NM_003263.4

p.F701Y

c.2102T>A

1 paper

NM_003263.4

p.N700N

c.2100C>T

1 paper

NM_003263.4

p.E710E

c.2130A>G

1 paper

NM_003263.4

p.L711V

c.2131C>G

2 papers

NM_003263.4

p.L697S

c.2090T>C