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

1 paper

NM_000527.5

p.V506_A521del0

c.1516_1563del48

Surrounding Variants

6 papers

NM_000527.5

p.G505D

c.1514G>A

1 paper

NM_000527.5

p.G505A

c.1514G>C

1 paper

NM_000527.5

p.V506insFs

c.1516dupG

1 paper

NM_000527.5

p.G505fs

c.1513_1514fs

2 papers

NM_000527.5

p.G505_V506insG

c.1513_1517ins3

5 papers

NM_000527.5

p.V506M

c.1516G>A

1 paper

NM_000527.5

p.V506fs

c.1516_1517fs

1 paper

NM_000527.5

p.V506fs

c.1516_1517fs

2 papers

NM_000527.5

p.K504insFs

c.1511_1512insG

1 paper

NM_000527.5

p.K504R

c.1511A>G

1 paper

NM_000527.5

p.G505delFs

c.1514delG

1 paper

NM_000527.5

p.V506A

c.1517T>C