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.A8A

c.24C>T

Surrounding Variants

1 paper

NM_003263.4

p.A8V

c.23C>T

1 paper

NM_003263.4

p.I9L

c.25A>C

1 paper

NM_003263.4

p.I9I

c.27T>A

1 paper

NM_003263.4

p.I10V

c.28A>G

1 paper

NM_003263.4

p.I10L

c.28A>C

1 paper

NM_003263.4

p.F11L

c.31T>C

2 papers

NM_003263.4

p.F11F

c.33C>T

1 paper

NM_003263.4

p.I4I

c.12C>T

1 paper

NM_003263.4

p.L13V

c.37T>G

1 paper

NM_003263.4

p.L13L

c.37T>C

1 paper

NM_003263.4

p.I4L

c.10A>C

1 paper

NM_003263.4

p.L13L

c.39A>G