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.H340Y

c.1018C>T

Surrounding Variants

1 paper

NM_003263.4

p.V339V

c.1017C>T

1 paper

NM_003263.4

p.V339L

c.1015G>C

1 paper

NM_003263.4

p.M338T

c.1013T>C

1 paper

NM_003263.4

p.M341I

c.1023G>A

1 paper

NM_003263.4

p.M338V

c.1012A>G

1 paper

NM_003263.4

p.R337R

c.1011C>T

1 paper

NM_003263.4

p.R337H

c.1010G>A

4 papers

NM_003263.4

p.R337C

c.1009C>T

1 paper

NM_003263.4

p.R337G

c.1009C>G

1 paper

NM_003263.4

p.R337S

c.1009C>A

1 paper

NM_003263.4

p.T336T

c.1008A>T

1 paper

NM_003263.4

p.C343C

c.1029C>T