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

2 papers

NM_000527.5

p.V550insFs

c.1649_1650insG

Surrounding Variants

1 paper

NM_000527.5

p.V550A

c.1649T>C

2 papers

NM_000527.5

p.V550delFs

c.1650delG

2 papers

NM_000527.5

p.V550M

c.1648G>A

1 paper

NM_000527.5

p.V550L

c.1648G>C

1 paper

NM_000527.5

p.D551_S554delFs

c.1652_1662del11

1 paper

NM_000527.5

p.V550fs

c.1648_1649fs

2 papers

NM_000527.5

p.D551N

c.1651G>A

1 paper

NM_000527.5

p.D551Y

c.1651G>T

1 paper

NM_000527.5

p.V550delFs

c.1648delG

1 paper

NM_000527.5

p.D551G

c.1652A>G

86 papers

NM_000527.5

p.G549D

c.1646G>A

1 paper

NM_000527.5

p.G549insFs

c.1647dupT