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.K462K

c.1386A>G

Surrounding Variants

1 paper

NM_003263.4

p.V464V

c.1392C>T

1 paper

NM_003263.4

p.V464V

c.1392C>A

1 paper

NM_003263.4

p.V465L

c.1393G>T

1 paper

NM_003263.4

p.V465L

c.1393G>C

3 papers

NM_003263.4

p.V465I

c.1393G>A

4 papers

NM_003263.4

p.I460V

c.1378A>G

1 paper

NM_003263.4

p.S459S

c.1377C>T

2 papers

NM_003263.4

p.S459N

c.1376G>A

1 paper

NM_003263.4

p.S459G

c.1375A>G

1 paper

NM_003263.4

p.Q463_L467del0

c.1388_1399del12

1 paper

NM_003263.4

p.Q463_L467del5

c.1387_1400del15

1 paper

NM_003263.4

p.A469V

c.1406C>T