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.Y320Y

c.960T>C

Surrounding Variants

2 papers

NM_003263.4

p.Y320N

c.958T>A

1 paper

NM_003263.4

p.E321V

c.962A>T

1 paper

NM_003263.4

p.I319I

c.957C>T

1 paper

NM_003263.4

p.I322T

c.965T>C

1 paper

NM_003263.4

p.Y318F

c.953A>T

1 paper

NM_003263.4

p.S317N

c.950G>A

1 paper

NM_003263.4

p.Q316_S317delFs

c.948_949delTT

1 paper

NM_003263.4

p.S324L

c.971C>T

2 papers

NM_003263.4

p.S324*

c.971C>A

1 paper

NM_003263.4

p.S324S

c.972G>A

1 paper

NM_003263.4

p.Q316fs

c.946_947fs

1 paper

NM_003263.4

p.Q316K

c.946C>A