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

3 papers

NM_003263.4

p.S348R

c.1044C>A

Surrounding Variants

3 papers

NM_003263.4

p.S348R

c.1044C>G

1 paper

NM_003263.4

p.P349L

c.1046C>T

3 papers

NM_003263.4

p.S348R

c.1042A>C

1 paper

NM_003263.4

p.I347I

c.1041T>C

1 paper

NM_003263.4

p.P349P

c.1047G>A

1 paper

NM_003263.4

p.I347T

c.1040T>C

1 paper

NM_003263.4

p.F350F

c.1050C>T

1 paper

NM_003263.4

p.S345F

c.1034C>T

5 papers

NM_003263.4

p.H352N

c.1054C>A

1 paper

NM_003263.4

p.P344P

c.1032A>G

1 paper

NM_003263.4

p.C343C

c.1029C>T

1 paper

NM_003263.4

p.C343*

c.1029C>A