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.H583delFs

c.1747_1748delCA

Surrounding Variants

1 paper

NM_000527.5

p.L582L

c.1746T>C

2 papers

NM_000527.5

p.H583_I585delFs

c.1749_1753del5

4 papers

NM_000527.5

p.H583D

c.1747C>G

94 papers

NM_000527.5

p.H583Y

c.1747C>T

1 paper

NM_000527.5

p.H583fs

c.1747_1748fs

15 papers

NM_000527.5

p.L582P

c.1745T>C

7 papers

NM_000527.5

p.H583R

c.1748A>G

2 papers

NM_000527.5

p.H583delFs

c.1749delC

2 papers

NM_000527.5

p.L582insFs

c.1744_1745insG

1 paper

NM_000527.5

p.L582fs

c.1744_1745fs

1 paper

NM_000527.5

p.L582V

c.1744C>G

7 papers

NM_000527.5

p.L582F

c.1744C>T