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.H102Y

c.304C>T

Surrounding Variants

5 papers

NM_003263.4

p.S101P

c.301T>C

3 papers

NM_003263.4

p.N103S

c.308A>G

1 paper

NM_003263.4

p.D99N

c.295G>A

1 paper

NM_003263.4

p.L98V

c.292T>G

1 paper

NM_003263.4

p.K107T

c.320A>C

1 paper

NM_003263.4

p.K107K

c.321G>A

1 paper

NM_003263.4

p.E96K

c.286G>A

1 paper

NM_003263.4

p.I108F

c.322A>T

1 paper

NM_003263.4

p.I108V

c.322A>G

1 paper

NM_003263.4

p.L95*

c.284T>A

1 paper

NM_003263.4

p.S109P

c.325T>C

1 paper

NM_003263.4

p.N92N

c.276C>T