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

11 papers

NM_000527.5

p.G545R

c.1633G>C

Surrounding Variants

11 papers

NM_000527.5

p.G545R

c.1633G>A

8 papers

NM_000527.5

p.G545W

c.1633G>T

4 papers

NM_000527.5

p.G546insFs

c.1637dupG

3 papers

NM_000527.5

p.G546delFs

c.1637delG

13 papers

NM_000527.5

p.G545E

c.1634G>A

1 paper

NM_000527.5

p.G545A

c.1634G>C

1 paper

NM_000527.5

p.G546_G549delFs

c.1637_1646del10

1 paper

NM_000527.5

p.K544T

c.1631A>C

1 paper

NM_000527.5

p.K544R

c.1631A>G

1 paper

NM_000527.5

p.G545G

c.1635G>A

1 paper

NM_000527.5

p.G545G

c.1635G>C

1 paper

NM_000527.5

p.G545G

c.1635G>T