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.E630G

c.1889A>G

Surrounding Variants

4 papers

NM_003263.4

p.L631R

c.1892T>G

1 paper

NM_003263.4

p.L628V

c.1882T>G

1 paper

NM_003263.4

p.R633I

c.1898G>T

1 paper

NM_003263.4

p.N634K

c.1902T>G

1 paper

NM_003263.4

p.N634N

c.1902T>C

1 paper

NM_003263.4

p.N634K

c.1902T>A

2 papers

NM_003263.4

p.N625Y

c.1873A>T

1 paper

NM_003263.4

p.R624R

c.1872G>A

1 paper

NM_003263.4

p.F637Y

c.1910T>A

1 paper

NM_003263.4

p.R622R

c.1866G>A

1 paper

NM_003263.4

p.H638D

c.1912C>G

1 paper

NM_003263.4

p.H638L

c.1913A>T