Varaico: Literature-Extracted Genetic Variants

LDLR

2,667 papers

RefSeq Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the ce...

Pfam Domains

Ldl_recept_aaa 25–63UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 66–104UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 107–143UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 146–184UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 195–231UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 234–270UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

low density lipoprotein receptor

HGNC Alias Symbol

LDLCQ2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

17 papers

NM_000527.5

p.W87*

c.260G>A

Surrounding Variants

1 paper

NM_000527.5

p.W87delins

c.260_261delinsAA

1 paper

NM_000527.5

p.W87_R88delFs

c.261_262delGA

1 paper

NM_000527.5

p.W87_R88delins

c.261_262delinsGA

17 papers

NM_000527.5

p.W87*

c.261G>A

1 paper

NM_000527.5

p.W87C

c.261G>C

1 paper

NM_000527.5

p.W87_R88delins

c.261_262delinsAG

13 papers

NM_000527.5

p.W87R

c.259T>A

12 papers

NM_000527.5

p.W87R

c.259T>C

72 papers

NM_000527.5

p.W87G

c.259T>G

2 papers

NM_000527.5

p.W87_R88insA

c.259_263ins3

4 papers

NM_000527.5

p.R88G

c.262A>G

4 papers

NM_000527.5

p.R88W

c.262A>T