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

11 papers

NM_000527.5

p.L432V

c.1294C>G

Surrounding Variants

1 paper

NM_000527.5

p.L432_D433insA

c.1294_1298ins3

5 papers

NM_000527.5

p.L432P

c.1295T>C

2 papers

NM_000527.5

p.L432R

c.1295T>G

2 papers

NM_000527.5

p.A431_L432insFs

c.1293_1294insA

2 papers

NM_000527.5

p.A431insFs

c.1292_1293insA

1 paper

NM_000527.5

p.A431G

c.1292C>G

4 papers

NM_000527.5

p.A431V

c.1292C>T

2 papers

NM_000527.5

p.L432L

c.1296G>T

60 papers

NM_000527.5

p.A431T

c.1291G>A

20 papers

NM_000527.5

p.D433H

c.1297G>C

8 papers

NM_000527.5

p.A431P

c.1291G>C

1 paper

NM_000527.5

p.D433_T434insG

c.1297_1301ins3