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.M590I

c.1770G>A

Surrounding Variants

1 paper

NM_003263.4

p.L591L

c.1773G>T

1 paper

NM_003263.4

p.A588A

c.1764C>T

1 paper

NM_003263.4

p.A588S

c.1762G>T

1 paper

NM_003263.4

p.A588T

c.1762G>A

7 papers

NM_003263.4

p.V587G

c.1760T>G

3 papers

NM_003263.4

p.V587I

c.1759G>A

1 paper

NM_003263.4

p.I586I

c.1758C>T

1 paper

NM_003263.4

p.A594_V595del0

c.1780_1785del6

1 paper

NM_003263.4

p.T585A

c.1753A>G

1 paper

NM_003263.4

p.V584A

c.1751T>C

1 paper

NM_003263.4

p.V597M

c.1789G>A

1 paper

NM_003263.4

p.V584I

c.1750G>A