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

3 papers

NM_003263.4

p.T363M

c.1088C>T

Surrounding Variants

1 paper

NM_003263.4

p.D362Y

c.1084G>T

2 papers

NM_003263.4

p.T361S

c.1081A>T

1 paper

NM_003263.4

p.E366*

c.1096G>T

1 paper

NM_003263.4

p.N367N

c.1101T>C

1 paper

NM_003263.4

p.F355F

c.1065T>C

2 papers

NM_003263.4

p.L371F

c.1111C>T

1 paper

NM_003263.4

p.E373K

c.1117G>A

5 papers

NM_003263.4

p.H352N

c.1054C>A

1 paper

NM_003263.4

p.F350F

c.1050C>T

1 paper

NM_003263.4

p.P349P

c.1047G>A

1 paper

NM_003263.4

p.L377F

c.1129C>T

1 paper

NM_003263.4

p.L377H

c.1130T>A