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.P675A

c.2023C>G

Surrounding Variants

1 paper

NM_003263.4

p.P675R

c.2024C>G

1 paper

NM_003263.4

p.P675H

c.2024C>A

1 paper

NM_003263.4

p.P675P

c.2025T>C

1 paper

NM_003263.4

p.V674A

c.2021T>C

2 papers

NM_003263.4

p.V674I

c.2020G>A

1 paper

NM_003263.4

p.G676A

c.2027G>C

1 paper

NM_003263.4

p.G676G

c.2028C>T

1 paper

NM_003263.4

p.G676G

c.2028C>A

3 papers

NM_003263.4

p.K677N

c.2031G>T

3 papers

NM_003263.4

p.K677N

c.2031G>C

3 papers

NM_003263.4

p.N672D

c.2014A>G

1 paper

NM_003263.4

p.S678S

c.2034C>T