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.S252R

c.754A>C

Surrounding Variants

2 papers

NM_000527.5

p.S252G

c.754A>G

2 papers

NM_000527.5

p.S252R

c.756C>A

2 papers

NM_000527.5

p.S252R

c.756C>G

1 paper

NM_000527.5

p.G251D

c.752G>A

1 paper

NM_000527.5

p.G251V

c.752G>T

2 papers

NM_000527.5

p.R253_Q254insA

c.757_761ins3

10 papers

NM_000527.5

p.R253W

c.757C>T

1 paper

NM_000527.5

p.G251S

c.751G>A

2 papers

NM_000527.5

p.R253Q

c.758G>A

3 papers

NM_000527.5

p.R253P

c.758G>C

1 paper

NM_000527.5

p.H250Q

c.750T>A

1 paper

NM_000527.5

p.H250H

c.750T>C