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

3 papers

NM_000527.5

p.Y553_S554insG

c.1657_1661ins3

Surrounding Variants

1 paper

NM_000527.5

p.Y553H

c.1657T>C

7 papers

NM_000527.5

p.Y553C

c.1658A>G

2 papers

NM_000527.5

p.I552_Y553insFs

c.1656_1657insT

2 papers

NM_000527.5

p.Y553*

c.1659C>A

3 papers

NM_000527.5

p.Y553*

c.1659C>G

1 paper

NM_000527.5

p.Y553_S554delins

c.1659_1661delinsATACTTTCA

1 paper

NM_000527.5

p.I552T

c.1655T>C

1 paper

NM_000527.5

p.I552insFs

c.1656dupC

1 paper

NM_000527.5

p.I552delFs

c.1656delC

1 paper

NM_000527.5

p.Y553_S554del1

c.1658_1660delACT

2 papers

NM_000527.5

p.I552_Y553insC

c.1654_1658ins3

1 paper

NM_000527.5

p.I552V

c.1654A>G