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

4 papers

NM_000527.5

p.W562C

c.1686G>T

Surrounding Variants

7 papers

NM_000527.5

p.W562*

c.1686G>A

3 papers

NM_000527.5

p.W562C

c.1686G>C

3 papers

NM_000527.5

p.P563insFs

c.1689dupC

6 papers

NM_000527.5

p.W562_G565Fs

c.1686_1693delinsTFs

2 papers

NM_000527.5

p.P563T

c.1687C>A

1 paper

NM_000527.5

p.P563insFs

c.1687_1688insG

4 papers

NM_000527.5

p.P563S

c.1687C>T

2 papers

NM_000527.5

p.P563fs

c.1687_1688fs

6 papers

NM_000527.5

p.W562*

c.1685G>A

5 papers

NM_000527.5

p.P563H

c.1688C>A

1 paper

NM_000527.5

p.P563L

c.1688C>T

1 paper

NM_000527.5

p.W562R

c.1684T>A