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.P197P

c.591C>A

Surrounding Variants

3 papers

NM_003263.4

p.T198P

c.592A>C

2 papers

NM_003263.4

p.P197delFs

c.591delG

1 paper

NM_003263.4

p.T198fs

c.592_593fs

2 papers

NM_003263.4

p.T198I

c.593C>T

2 papers

NM_003263.4

p.P197S

c.589C>T

1 paper

NM_003263.4

p.P197T

c.589C>A

1 paper

NM_003263.4

p.T198delFs

c.593delG

1 paper

NM_003263.4

p.F196S

c.587T>C

3 papers

NM_003263.4

p.N199N

c.597C>T

1 paper

NM_003263.4

p.K200E

c.598A>G

1 paper

NM_003263.4

p.I194T

c.581T>C

1 paper

NM_003263.4

p.H193H

c.579C>T