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.G145R

c.433G>A

Surrounding Variants

1 paper

NM_003263.4

p.G145R

c.433G>C

1 paper

NM_003263.4

p.L144L

c.432G>A

7 papers

NM_003263.4

p.L144P

c.431T>C

1 paper

NM_003263.4

p.L146L

c.438G>A

1 paper

NM_003263.4

p.H150P

c.449A>C

1 paper

NM_003263.4

p.H150H

c.450C>T

1 paper

NM_003263.4

p.S139Y

c.416C>A

1 paper

NM_003263.4

p.N137S

c.410A>G

1 paper

NM_003263.4

p.K153T

c.458A>C

1 paper

NM_003263.4

p.S155S

c.465T>C

1 paper

NM_003263.4

p.E134*

c.400G>T

1 paper

NM_003263.4

p.S155_V156delFs

c.463_467del5