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.G374insFs

c.1120_1121ins4

Surrounding Variants

4 papers

NM_000527.5

p.G374S

c.1120G>A

1 paper

NM_000527.5

p.G374fs

c.1120_1121fs

1 paper

NM_000527.5

p.G374_Y375ins4

c.1120_1124ins12

1 paper

NM_000527.5

p.G374C

c.1120G>T

1 paper

NM_000527.5

p.G374delins

c.1120_1121delinsTC

1 paper

NM_000527.5

p.Y375_E381del7

c.1123_1142del21

27 papers

NM_000527.5

p.G373D

c.1118G>A

3 papers

NM_000527.5

p.G373A

c.1118G>C

4 papers

NM_000527.5

p.G374_Y375insFs

c.1120_1123dup4

4 papers

NM_000527.5

p.G373V

c.1118G>T

1 paper

NM_000527.5

p.G373S

c.1117G>A

6 papers

NM_000527.5

p.G373C

c.1117G>T