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.V806D

c.2417T>A

Surrounding Variants

2 papers

NM_000527.5

p.V806A

c.2417T>C

1 paper

NM_000527.5

p.V806G

c.2417T>G

11 papers

NM_000527.5

p.V806insFs

c.2417_2418insG

6 papers

NM_000527.5

p.V806I

c.2416G>A

12 papers

NM_000527.5

p.V806fs

c.2416_2417fs

2 papers

NM_000527.5

p.V806F

c.2416G>T

21 papers

NM_000527.5

p.V806fs

c.2416_2417fs

1 paper

NM_000527.5

p.F807L

c.2419T>C

4 papers

NM_000527.5

p.F807fs

c.2419_2420fs

1 paper

NM_000527.5

p.G805E

c.2414G>A

1 paper

NM_000527.5

p.G805A

c.2414G>C

1 paper

NM_000527.5

p.F807S

c.2420T>C