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.W258R

c.772T>C

Surrounding Variants

1 paper

NM_003263.4

p.W258R

c.772T>A

1 paper

NM_003263.4

p.I254I

c.762T>C

1 paper

NM_003263.4

p.R263T

c.788G>C

1 paper

NM_003263.4

p.L251*

c.752T>G

1 paper

NM_003263.4

p.L251*

c.752T>A

1 paper

NM_003263.4

p.T250delFs

c.750delG

1 paper

NM_003263.4

p.L265R

c.794T>G

1 paper

NM_003263.4

p.L265P

c.794T>C

1 paper

NM_003263.4

p.T250T

c.750C>A

6 papers

NM_003263.4

p.L249F

c.745C>T

1 paper

NM_003263.4

p.L267L

c.801G>T

1 paper

NM_003263.4

p.L267L

c.801G>C