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.F27L

c.79T>C

Surrounding Variants

1 paper

NM_003263.4

p.F27V

c.79T>G

2 papers

NM_003263.4

p.E26G

c.77A>G

1 paper

NM_003263.4

p.E26A

c.77A>C

1 paper

NM_003263.4

p.L28V

c.82T>G

3 papers

NM_003263.4

p.E26*

c.76G>T

1 paper

NM_003263.4

p.L28L

c.84A>G

1 paper

NM_003263.4

p.V29F

c.85G>T

1 paper

NM_003263.4

p.D30V

c.89A>T

1 paper

NM_003263.4

p.D30G

c.89A>G

2 papers

NM_003263.4

p.R31G

c.91A>G

1 paper

NM_003263.4

p.R31R

c.93G>A

1 paper

NM_003263.4

p.S22F

c.65C>T