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

6 papers

NM_000527.5

p.C222Y

c.665G>A

Surrounding Variants

1 paper

NM_000527.5

p.C222ins2

c.665_666ins6

2 papers

NM_000527.5

p.K223_D227ins1

c.667_681dup15

1 paper

NM_000527.5

p.C222insFs

c.665_666insT

12 papers

NM_000527.5

p.C222F

c.665G>T

1 paper

NM_000527.5

p.C222_E229delFs

c.666_687del22

21 papers

NM_000527.5

p.C222*

c.666C>A

2 papers

NM_000527.5

p.C222_K223insFs

c.666_667insA

1 paper

NM_000527.5

p.K223_D227insFs

c.667_680dup14

3 papers

NM_000527.5

p.C222W

c.666C>G

1 paper

NM_000527.5

p.C222C

c.666C>T

1 paper

NM_000527.5

p.C222S

c.664T>A

21 papers

NM_000527.5

p.C222R

c.664T>C