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

9 papers

NM_000527.5

p.L680_C681del2

c.2038_2042del6

Surrounding Variants

10 papers

NM_000527.5

p.Y679*

c.2037T>A

1 paper

NM_000527.5

p.Y679Y

c.2037T>C

8 papers

NM_000527.5

p.Y679*

c.2037T>G

1 paper

NM_000527.5

p.Y679C

c.2036A>G

1 paper

NM_000527.5

p.L680_C681ins10

c.2038_2042ins30

1 paper

NM_000527.5

p.L680_C681ins12

c.2038_2042ins36

2 papers

NM_000527.5

p.L680V

c.2038C>G

2 papers

NM_000527.5

p.L680L

c.2038C>T

1 paper

NM_000527.5

p.C681delFs

c.2041_2042delTG

5 papers

NM_000527.5

p.L680P

c.2039T>C

1 paper

NM_000527.5

p.Y679H

c.2035T>C

1 paper

NM_000527.5

p.Y679insFs

c.2035_2036insA