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.T332fs

c.994_995fs

Surrounding Variants

1 paper

NM_003263.4

p.K329_T332del0

c.986_994del9

2 papers

NM_003263.4

p.T332delFs

c.995_996delTG

1 paper

NM_003263.4

p.V333G

c.998T>G

1 paper

NM_003263.4

p.N330delFs

c.989delT

1 paper

NM_003263.4

p.S334F

c.1001C>T

2 papers

NM_003263.4

p.G335A

c.1004G>C

1 paper

NM_003263.4

p.I328T

c.983T>C

3 papers

NM_003263.4

p.I328N

c.983T>A

1 paper

NM_003263.4

p.I328V

c.982A>G

1 paper

NM_003263.4

p.N327N

c.981C>T

1 paper

NM_003263.4

p.T336T

c.1008A>T

4 papers

NM_003263.4

p.R337C

c.1009C>T