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.L387F

c.1159C>T

Surrounding Variants

1 paper

NM_003263.4

p.S388A

c.1162T>G

1 paper

NM_003263.4

p.S388P

c.1162T>C

1 paper

NM_003263.4

p.E386*

c.1156G>T

1 paper

NM_003263.4

p.E386K

c.1156G>A

1 paper

NM_003263.4

p.L384*

c.1151T>A

1 paper

NM_003263.4

p.Q383Q

c.1149A>G

2 papers

NM_003263.4

p.I390M

c.1170A>G

4 papers

NM_003263.4

p.E392K

c.1174G>A

1 paper

NM_003263.4

p.M393I

c.1179G>T

1 paper

NM_003263.4

p.M393I

c.1179G>C

1 paper

NM_003263.4

p.M393I

c.1179G>A

1 paper

NM_003263.4

p.Q380R

c.1139A>G