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

5 papers

NM_000527.5

p.A501E

c.1502C>A

Surrounding Variants

19 papers

NM_000527.5

p.A501V

c.1502C>T

4 papers

NM_000527.5

p.A501A

c.1503G>A

1 paper

NM_000527.5

p.A501T

c.1501G>A

2 papers

NM_000527.5

p.A501insFs

c.1502_1503insC

3 papers

NM_000527.5

p.D502Y

c.1504G>T

1 paper

NM_000527.5

p.D502G

c.1505A>G

4 papers

NM_000527.5

p.V500A

c.1499T>C

1 paper

NM_000527.5

p.V500I

c.1498G>A

1 paper

NM_000527.5

p.V500F

c.1498G>T

1 paper

NM_000527.5

p.V500fs

c.1498_1499fs

2 papers

NM_000527.5

p.T503_K504insG

c.1507_1511ins3

1 paper

NM_000527.5

p.T503A

c.1507A>G