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.I221F

c.661A>T

Surrounding Variants

1 paper

NM_003263.4

p.K222*

c.664A>T

2 papers

NM_003263.4

p.N220D

c.658A>G

1 paper

NM_003263.4

p.S219F

c.656C>T

1 paper

NM_003263.4

p.S219T

c.655T>A

1 paper

NM_003263.4

p.C223C

c.669T>C

1 paper

NM_003263.4

p.E217D

c.651A>T

1 paper

NM_003263.4

p.E217D

c.651A>C

1 paper

NM_003263.4

p.E217fs

c.649_650fs

1 paper

NM_003263.4

p.E217V

c.650A>T

1 paper

NM_003263.4

p.E217A

c.650A>C

1 paper

NM_003263.4

p.L225I

c.673C>A

1 paper

NM_003263.4

p.L225P

c.674T>C