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

12 papers

NM_000527.5

p.I585T

c.1754T>C

Surrounding Variants

3 papers

NM_000527.5

p.I585N

c.1754T>A

2 papers

NM_000527.5

p.I585L

c.1753A>C

2 papers

NM_000527.5

p.I585V

c.1753A>G

1 paper

NM_000527.5

p.S586delFs

c.1756delT

1 paper

NM_000527.5

p.I585insFs

c.1753_1754insA

1 paper

NM_000527.5

p.I585delFs

c.1753delA

8 papers

NM_000527.5

p.S586P

c.1756T>C

5 papers

NM_000527.5

p.S586*

c.1757C>A

4 papers

NM_000527.5

p.S586*

c.1757C>G

2 papers

NM_000527.5

p.S584F

c.1751C>T

3 papers

NM_000527.5

p.S587delFs

c.1759delA

1 paper

NM_000527.5

p.S586_S587insFs

c.1758_1759insG