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

2 papers

NM_000527.5

p.D307E

c.921T>A

Surrounding Variants

2 papers

NM_000527.5

p.D307E

c.921T>G

3 papers

NM_000527.5

p.D307insFs

c.920_921ins4

1 paper

NM_000527.5

p.D307A

c.920A>C

4 papers

NM_000527.5

p.D307G

c.920A>G

11 papers

NM_000527.5

p.E308K

c.922G>A

2 papers

NM_000527.5

p.E308insFs

c.922_923insA

1 paper

NM_000527.5

p.E308fs

c.922_923fs

2 papers

NM_000527.5

p.E308G

c.923A>G

14 papers

NM_000527.5

p.P309_K311delFs

c.925_931del7

9 papers

NM_000527.5

p.D307N

c.919G>A

4 papers

NM_000527.5

p.D307H

c.919G>C

2 papers

NM_000527.5

p.D307Y

c.919G>T