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.Y643*

c.1929T>A

Surrounding Variants

1 paper

NM_003263.4

p.Y643*

c.1929T>G

1 paper

NM_003263.4

p.Y643C

c.1928A>G

1 paper

NM_003263.4

p.S644R

c.1932T>G

1 paper

NM_003263.4

p.G645E

c.1934G>A

2 papers

NM_003263.4

p.H646H

c.1938C>T

1 paper

NM_003263.4

p.D647N

c.1939G>A

1 paper

NM_003263.4

p.A639E

c.1916C>A

1 paper

NM_003263.4

p.H638L

c.1913A>T

1 paper

NM_003263.4

p.H638R

c.1913A>G

1 paper

NM_003263.4

p.H638D

c.1912C>G

1 paper

NM_003263.4

p.W650G

c.1948T>G

1 paper

NM_003263.4

p.F637Y

c.1910T>A