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.D168fs

c.502_503fs

Surrounding Variants

38 papers

NM_000527.5

p.D168N

c.502G>A

11 papers

NM_000527.5

p.D168H

c.502G>C

8 papers

NM_000527.5

p.D168Y

c.502G>T

2 papers

NM_000527.5

p.D168insFs

c.503_504insC

2 papers

NM_000527.5

p.D168insFs

c.503_504insG

5 papers

NM_000527.5

p.D168A

c.503A>C

6 papers

NM_000527.5

p.D168G

c.503A>G

1 paper

NM_000527.5

p.D168V

c.503A>T

1 paper

NM_000527.5

p.N169_P171delFs

c.505_511del7

37 papers

NM_000527.5

p.C167*

c.501C>A

7 papers

NM_000527.5

p.C167W

c.501C>G

1 paper

NM_000527.5

p.D168delFs

c.502delG