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.I278V

c.832A>G

Surrounding Variants

1 paper

NM_003263.4

p.I278T

c.833T>C

1 paper

NM_003263.4

p.S277S

c.831A>T

2 papers

NM_003263.4

p.I278M

c.834T>G

1 paper

NM_003263.4

p.N280D

c.838A>G

1 paper

NM_003263.4

p.N280N

c.840C>T

1 paper

NM_003263.4

p.Y275insFs

c.824_825ins4

1 paper

NM_003263.4

p.V281M

c.841G>A

1 paper

NM_003263.4

p.W274L

c.821G>T

1 paper

NM_003263.4

p.V273V

c.819A>G

1 paper

NM_003263.4

p.T272del1

c.814_815delAGT

1 paper

NM_003263.4

p.L283P

c.848T>C

1 paper

NM_003263.4

p.T271_T272del1

c.813_815delGTT