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.Y465_D466insA

c.1393_1397ins3

Surrounding Variants

7 papers

NM_000527.5

p.Y465N

c.1393T>A

1 paper

NM_000527.5

p.Y465H

c.1393T>C

1 paper

NM_000527.5

p.Y465D

c.1393T>G

5 papers

NM_000527.5

p.Y465C

c.1394A>G

3 papers

NM_000527.5

p.S464delins

c.1391delinsA

1 paper

NM_000527.5

p.Y465*

c.1395T>A

1 paper

NM_000527.5

p.Y465*

c.1395T>G

2 papers

NM_000527.5

p.D466insFs

c.1396_1397insA

1 paper

NM_000527.5

p.S464P

c.1390T>C

1 paper

NM_000527.5

p.S464delFs

c.1392delC

1 paper

NM_000527.5

p.D466G

c.1397A>G

1 paper

NM_000527.5

p.D466V

c.1397A>T