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

6 papers

NM_000527.5

p.I598L

c.1792A>C

Surrounding Variants

2 papers

NM_000527.5

p.I598V

c.1792A>G

3 papers

NM_000527.5

p.I598N

c.1793T>A

3 papers

NM_000527.5

p.I598T

c.1793T>C

2 papers

NM_000527.5

p.T597N

c.1790C>A

1 paper

NM_000527.5

p.T597A

c.1789A>G

1 paper

NM_000527.5

p.K596_T597insFs

c.1788_1789insGT

1 paper

NM_000527.5

p.T597delFs

c.1789delA

14 papers

NM_000527.5

p.L599S

c.1796T>C

2 papers

NM_000527.5

p.L599W

c.1796T>G

2 papers

NM_000527.5

p.K596R

c.1787A>G

4 papers

NM_000527.5

p.K596E

c.1786A>G

1 paper

NM_000527.5

p.E600_E602delFs

c.1800_1806del7