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

2 papers

NM_003263.4

p.A238V

c.713C>T

Surrounding Variants

1 paper

NM_003263.4

p.A238E

c.713C>A

1 paper

NM_003263.4

p.A238A

c.714G>A

1 paper

NM_003263.4

p.L240F

c.718C>T

1 paper

NM_003263.4

p.S235N

c.704G>A

1 paper

NM_003263.4

p.Q241Q

c.723A>G

1 paper

NM_003263.4

p.L234L

c.702A>G

7 papers

NM_003263.4

p.N248D

c.742A>G

125 papers

NM_003263.4

p.N248S

c.743A>G

6 papers

NM_003263.4

p.L249F

c.745C>T

1 paper

NM_003263.4

p.E226Q

c.676G>C

1 paper

NM_003263.4

p.E226K

c.676G>A

1 paper

NM_003263.4

p.T250T

c.750C>A