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.E51fs

c.151_152fs

Surrounding Variants

4 papers

NM_000527.5

p.E51K

c.151G>A

2 papers

NM_000527.5

p.E51Q

c.151G>C

2 papers

NM_000527.5

p.E51insFs

c.151_152insC

2 papers

NM_000527.5

p.E51*

c.151G>T

1 paper

NM_000527.5

p.E51A

c.152A>C

2 papers

NM_000527.5

p.E51G

c.152A>G

1 paper

NM_000527.5

p.E51V

c.152A>T

6 papers

NM_000527.5

p.A50D

c.149C>A

1 paper

NM_000527.5

p.A50G

c.149C>G

2 papers

NM_000527.5

p.A50V

c.149C>T

1 paper

NM_000527.5

p.A50delFs

c.150delT

5 papers

NM_000527.5

p.E51D

c.153G>C