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.G522A

c.1565G>C

Surrounding Variants

1 paper

NM_003263.4

p.G522E

c.1565G>A

2 papers

NM_003263.4

p.G522R

c.1564G>C

2 papers

NM_003263.4

p.G522R

c.1564G>A

1 paper

NM_003263.4

p.D523N

c.1567G>A

1 paper

NM_003263.4

p.A521A

c.1563A>C

1 paper

NM_003263.4

p.F526C

c.1577T>G

1 paper

NM_003263.4

p.R517S

c.1551G>T

1 paper

NM_003263.4

p.R517S

c.1551G>C

1 paper

NM_003263.4

p.R517K

c.1550G>A

1 paper

NM_003263.4

p.R517R

c.1549A>C

1 paper

NM_003263.4

p.C528G

c.1582T>G

1 paper

NM_003263.4

p.C528R

c.1582T>C