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.M1delFs

c.2delA

Surrounding Variants

1 paper

NM_003263.4

p.M1I

c.3G>T

1 paper

NM_003263.4

p.M1_T2insFs

c.3_4insT

1 paper

NM_003263.4

p.M1I

c.3G>C

1 paper

NM_003263.4

p.M1I

c.3G>A

1 paper

NM_003263.4

p.M1T

c.2T>C

1 paper

NM_003263.4

p.T2A

c.4A>G

1 paper

NM_003263.4

p.T2I

c.5C>T

5 papers

NM_003263.4

p.M1V

c.1A>G

1 paper

NM_003263.4

p.S3N

c.8G>A

1 paper

NM_003263.4

p.I4L

c.10A>C

1 paper

NM_003263.4

p.I4I

c.12C>T

1 paper

NM_003263.4

p.A8V

c.23C>T