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.G24D

c.71G>A

Surrounding Variants

1 paper

NM_000527.5

p.G24A

c.71G>C

1 paper

NM_000527.5

p.G24insFs

c.72dupC

1 paper

NM_000527.5

p.G24V

c.71G>T

1 paper

NM_000527.5

p.G24delFs

c.72delC

1 paper

NM_000527.5

p.G24G

c.72C>T

2 papers

NM_000527.5

p.G24S

c.70G>A

2 papers

NM_000527.5

p.G24R

c.70G>C

1 paper

NM_000527.5

p.G24C

c.70G>T

1 paper

NM_000527.5

p.G24fs

c.70_71fs

4 papers

NM_000527.5

p.D25N

c.73G>A

1 paper

NM_000527.5

p.V23V

c.69G>A

1 paper

NM_000527.5

p.D25H

c.73G>C