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.L746F

c.2236C>T

Surrounding Variants

1 paper

NM_003263.4

p.K745N

c.2235G>T

1 paper

NM_003263.4

p.K745N

c.2235G>C

1 paper

NM_003263.4

p.K745E

c.2233A>G

1 paper

NM_003263.4

p.Y743Y

c.2229T>C

1 paper

NM_003263.4

p.Y743F

c.2228A>T

1 paper

NM_003263.4

p.M750T

c.2249T>C

1 paper

NM_003263.4

p.P740P

c.2220T>G

2 papers

NM_003263.4

p.P740S

c.2218C>T

1 paper

NM_003263.4

p.R752G

c.2254A>G

13 papers

NM_003263.4

p.R753K

c.2258G>A

1 paper

NM_003263.4

p.T754S

c.2260A>T

1 paper

NM_003263.4

p.T754S

c.2261C>G