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.S411S

c.1233C>T

Surrounding Variants

1 paper

NM_003263.4

p.Y412Y

c.1236T>C

1 paper

NM_003263.4

p.V410I

c.1228G>A

1 paper

NM_003263.4

p.S409Y

c.1226C>A

1 paper

NM_003263.4

p.E414G

c.1241A>G

1 paper

NM_003263.4

p.E414A

c.1241A>C

1 paper

NM_003263.4

p.N408H

c.1222A>C

2 papers

NM_003263.4

p.K416*

c.1246A>T

1 paper

NM_003263.4

p.S406S

c.1218C>T

2 papers

NM_003263.4

p.G417V

c.1250G>T

1 paper

NM_003263.4

p.I405V

c.1213A>G

1 paper

NM_003263.4

p.D404N

c.1210G>A

1 paper

NM_003263.4

p.Q402Q

c.1206A>G