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.F440F

c.1320C>T

Surrounding Variants

2 papers

NM_003263.4

p.C442R

c.1324T>C

1 paper

NM_003263.4

p.C442S

c.1324T>A

1 paper

NM_003263.4

p.C442S

c.1325G>C

1 paper

NM_003263.4

p.I439V

c.1315A>G

3 papers

NM_003263.4

p.L443I

c.1327T>A

1 paper

NM_003263.4

p.D437N

c.1309G>A

1 paper

NM_003263.4

p.N433S

c.1298A>G

1 paper

NM_003263.4

p.N433T

c.1298A>C

1 paper

NM_003263.4

p.S431delFs

c.1291delA

1 paper

NM_003263.4

p.L450P

c.1349T>C

8 papers

NM_003263.4

p.L450L

c.1350T>C

1 paper

NM_003263.4

p.M430V

c.1288A>G