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

3 papers

NM_003263.4

p.D180H

c.538G>C

Surrounding Variants

1 paper

NM_003263.4

p.E179D

c.537A>C

1 paper

NM_003263.4

p.G183A

c.548G>C

1 paper

NM_003263.4

p.G183D

c.548G>A

1 paper

NM_003263.4

p.G176E

c.527G>A

1 paper

NM_003263.4

p.G176R

c.526G>C

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.Y175S

c.524A>C

1 paper

NM_003263.4

p.Q185Q

c.555A>G

1 paper

NM_003263.4

p.D186N

c.556G>A

4 papers

NM_003263.4

p.D186D

c.558C>T

1 paper

NM_003263.4

p.E173K

c.517G>A