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

3 papers

NM_000527.5

p.D227V

c.680A>T

Surrounding Variants

1 paper

NM_000527.5

p.D227insFs

c.680_681ins10

2 papers

NM_000527.5

p.D227insFs

c.680_681ins11

1 paper

NM_000527.5

p.D227ins7

c.680_681ins21

2 papers

NM_000527.5

p.D227G

c.680A>G

1 paper

NM_000527.5

p.D227_E228Fs

c.680_682delinsCAFs

1 paper

NM_000527.5

p.E228_A232del0

c.683_694del12

65 papers

NM_000527.5

p.D227E

c.681C>A

2 papers

NM_000527.5

p.D227_E228insFs

c.681_682ins4

77 papers

NM_000527.5

p.D227E

c.681C>G

3 papers

NM_000527.5

p.E228delFs

c.682delG

1 paper

NM_000527.5

p.D227N

c.679G>A

1 paper

NM_000527.5

p.D227H

c.679G>C