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.D360N

c.1078G>A

Surrounding Variants

8 papers

NM_000527.5

p.D360H

c.1078G>C

1 paper

NM_000527.5

p.D360Y

c.1078G>T

1 paper

NM_000527.5

p.D360G

c.1079A>G

1 paper

NM_000527.5

p.D360del1

c.1078_1079delGAT

1 paper

NM_000527.5

p.Q359R

c.1076A>G

2 papers

NM_000527.5

p.D360E

c.1080T>A

2 papers

NM_000527.5

p.D360E

c.1080T>G

5 papers

NM_000527.5

p.Q359*

c.1075C>T

4 papers

NM_000527.5

p.P361S

c.1081C>T

1 paper

NM_000527.5

p.P361R

c.1082C>G

1 paper

NM_000527.5

p.D362_K376del15

c.1084_1127del45

18 papers

NM_000527.5

p.C358Y

c.1073G>A