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.T565S

c.1694C>G

Surrounding Variants

1 paper

NM_003263.4

p.T565S

c.1693A>T

1 paper

NM_003263.4

p.G564R

c.1690G>C

2 papers

NM_003263.4

p.G564R

c.1690G>A

1 paper

NM_003263.4

p.Y562Y

c.1686T>C

1 paper

NM_003263.4

p.E560G

c.1679A>G

1 paper

NM_003263.4

p.E560K

c.1678G>A

2 papers

NM_003263.4

p.P559P

c.1677G>A

1 paper

NM_003263.4

p.P559L

c.1676C>T

1 paper

NM_003263.4

p.P559Q

c.1676C>A

1 paper

NM_003263.4

p.M572V

c.1714A>G

1 paper

NM_003263.4

p.M572I

c.1716G>A

1 paper

NM_003263.4

p.D557D

c.1671C>T