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.E140V

c.419A>T

Surrounding Variants

3 papers

NM_000527.5

p.E140A

c.419A>C

8 papers

NM_000527.5

p.E140G

c.419A>G

43 papers

NM_000527.5

p.E140K

c.418G>A

21 papers

NM_000527.5

p.E140D

c.420G>C

2 papers

NM_000527.5

p.E140Q

c.418G>C

19 papers

NM_000527.5

p.E140D

c.420G>T

14 papers

NM_000527.5

p.E140*

c.418G>T

3 papers

NM_000527.5

p.S142_P144delFs

c.424_430del7

12 papers

NM_000527.5

p.D139E

c.417C>A

11 papers

NM_000527.5

p.D139E

c.417C>G

1 paper

NM_000527.5

p.A141T

c.421G>A

1 paper

NM_000527.5

p.A141P

c.421G>C