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

1 paper

NM_000527.5

p.L346insFs

c.1036_1037insT

Surrounding Variants

1 paper

NM_000527.5

p.L346V

c.1036C>G

1 paper

NM_000527.5

p.L346delFs

c.1037delT

1 paper

NM_000527.5

p.L346fs

c.1036_1037fs

1 paper

NM_000527.5

p.Q345_L346insFs

c.1035_1036insA

1 paper

NM_000527.5

p.Q345_L346insFs

c.1035_1036insT

1 paper

NM_000527.5

p.L346P

c.1037T>C

2 papers

NM_000527.5

p.V347_Q349del3

c.1039_1046del9

1 paper

NM_000527.5

p.Q345insFs

c.1035dupG

1 paper

NM_000527.5

p.Q345insFs

c.1034_1035insT

1 paper

NM_000527.5

p.Q345P

c.1034A>C

10 papers

NM_000527.5

p.Q345R

c.1034A>G

3 papers

NM_000527.5

p.Q345insFs

c.1034dupA