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.C601C

c.1803C>T

Surrounding Variants

1 paper

NM_003263.4

p.S602C

c.1804A>T

79 papers

NM_003263.4

p.S602I

c.1805G>T

1 paper

NM_003263.4

p.S602T

c.1805G>C

1 paper

NM_003263.4

p.S602N

c.1805G>A

2 papers

NM_003263.4

p.S599F

c.1796C>T

1 paper

NM_003263.4

p.T596_T598del0

c.1788_1793del6

2 papers

NM_003263.4

p.D605Y

c.1813G>T

1 paper

NM_003263.4

p.D605N

c.1813G>A

1 paper

NM_003263.4

p.V597V

c.1791G>C

1 paper

NM_003263.4

p.L606P

c.1817T>C

1 paper

NM_003263.4

p.V597M

c.1789G>A

1 paper

NM_003263.4

p.A594_V595del0

c.1780_1785del6