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.D477E

c.1431C>G

Surrounding Variants

2 papers

NM_000527.5

p.D477_G478insFs

c.1431_1432insG

1 paper

NM_000527.5

p.D477D

c.1431C>T

3 papers

NM_000527.5

p.G478delFs

c.1432delG

1 paper

NM_000527.5

p.D477G

c.1430A>G

1 paper

NM_000527.5

p.D477V

c.1430A>T

1 paper

NM_000527.5

p.G478_S486del9

c.1432_1457del27

45 papers

NM_000527.5

p.G478R

c.1432G>A

38 papers

NM_000527.5

p.G478R

c.1432G>C

2 papers

NM_000527.5

p.G478W

c.1432G>T

9 papers

NM_000527.5

p.D477N

c.1429G>A

5 papers

NM_000527.5

p.G478E

c.1433G>A

2 papers

NM_000527.5

p.D477H

c.1429G>C