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

3 papers

NM_000527.5

p.D433A

c.1298A>C

Surrounding Variants

1 paper

NM_000527.5

p.D433G

c.1298A>G

1 paper

NM_000527.5

p.D433V

c.1298A>T

4 papers

NM_000527.5

p.D433E

c.1299C>A

4 papers

NM_000527.5

p.D433E

c.1299C>G

20 papers

NM_000527.5

p.D433H

c.1297G>C

1 paper

NM_000527.5

p.D433_T434insG

c.1297_1301ins3

9 papers

NM_000527.5

p.D433Y

c.1297G>T

1 paper

NM_000527.5

p.T434P

c.1300A>C

1 paper

NM_000527.5

p.T434A

c.1300A>G

2 papers

NM_000527.5

p.L432L

c.1296G>T

9 papers

NM_000527.5

p.T434K

c.1301C>A

12 papers

NM_000527.5

p.T434R

c.1301C>G