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

2 papers

NM_003263.4

p.N124D

c.370A>G

Surrounding Variants

1 paper

NM_003263.4

p.S122L

c.365C>T

1 paper

NM_003263.4

p.A125A

c.375A>C

2 papers

NM_003263.4

p.S122A

c.364T>G

1 paper

NM_003263.4

p.F126S

c.377T>C

1 paper

NM_003263.4

p.L121M

c.361C>A

1 paper

NM_003263.4

p.D120D

c.360C>T

1 paper

NM_003263.4

p.D127D

c.381T>C

1 paper

NM_003263.4

p.A128V

c.383C>T

1 paper

NM_003263.4

p.H118Q

c.354C>G

1 paper

NM_003263.4

p.H118Q

c.354C>A

9 papers

NM_003263.4

p.H118Y

c.352C>T

1 paper

NM_003263.4

p.H118D

c.352C>G