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.V502I

c.1504G>A

Surrounding Variants

1 paper

NM_003263.4

p.V502F

c.1504G>T

1 paper

NM_003263.4

p.S501L

c.1502C>T

1 paper

NM_003263.4

p.S503F

c.1508C>T

1 paper

NM_003263.4

p.S506S

c.1518G>T

2 papers

NM_003263.4

p.S506S

c.1518G>A

1 paper

NM_003263.4

p.I496M

c.1488C>G

1 paper

NM_003263.4

p.L495F

c.1485G>T

2 papers

NM_003263.4

p.V494V

c.1482A>G

1 paper

NM_003263.4

p.S490R

c.1470C>A

2 papers

NM_003263.4

p.Q514*

c.1540C>T

1 paper

NM_003263.4

p.S488R

c.1464C>G

1 paper

NM_003263.4

p.S488R

c.1464C>A