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.S109P

c.325T>C

Surrounding Variants

1 paper

NM_003263.4

p.I108F

c.322A>T

1 paper

NM_003263.4

p.I108V

c.322A>G

1 paper

NM_003263.4

p.K107K

c.321G>A

1 paper

NM_003263.4

p.K107T

c.320A>C

1 paper

NM_003263.4

p.H111H

c.333C>T

3 papers

NM_003263.4

p.N103S

c.308A>G

1 paper

NM_003263.4

p.H102Y

c.304C>T

5 papers

NM_003263.4

p.S101P

c.301T>C

1 paper

NM_003263.4

p.K117R

c.350A>G

9 papers

NM_003263.4

p.H118Y

c.352C>T

1 paper

NM_003263.4

p.H118D

c.352C>G

1 paper

NM_003263.4

p.H118Q

c.354C>G