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.M326T

c.977T>C

Surrounding Variants

1 paper

NM_003263.4

p.M326I

c.978G>T

1 paper

NM_003263.4

p.M326I

c.978G>C

1 paper

NM_003263.4

p.M326I

c.978G>A

1 paper

NM_003263.4

p.N327N

c.981C>T

1 paper

NM_003263.4

p.S324S

c.972G>A

1 paper

NM_003263.4

p.I328V

c.982A>G

1 paper

NM_003263.4

p.I328T

c.983T>C

3 papers

NM_003263.4

p.I328N

c.983T>A

1 paper

NM_003263.4

p.S324L

c.971C>T

2 papers

NM_003263.4

p.S324*

c.971C>A

1 paper

NM_003263.4

p.I322T

c.965T>C

1 paper

NM_003263.4

p.N330delFs

c.989delT