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.D224_K225delins

c.670_675delinsTTT

Surrounding Variants

10 papers

NM_000527.5

p.D224N

c.670G>A

1 paper

NM_000527.5

p.D224H

c.670G>C

2 papers

NM_000527.5

p.D224_K225insG

c.670_674ins3

1 paper

NM_000527.5

p.D224Y

c.670G>T

1 paper

NM_000527.5

p.D224delFs

c.671_672delAC

1 paper

NM_000527.5

p.D224fs

c.670_671fs

2 papers

NM_000527.5

p.D224insFs

c.671_672insG

1 paper

NM_000527.5

p.D224A

c.671A>C

8 papers

NM_000527.5

p.D224G

c.671A>G

7 papers

NM_000527.5

p.D224V

c.671A>T

2 papers

NM_000527.5

p.K223N

c.669G>C

7 papers

NM_000527.5

p.K225_D227ins1

c.673_681dup9