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.D320delins

c.958delinsGCTT

Surrounding Variants

1 paper

NM_000527.5

p.N322del1

c.964_966delAAC

2 papers

NM_000527.5

p.D320insFs

c.959_960insG

1 paper

NM_000527.5

p.D320G

c.959A>G

1 paper

NM_000527.5

p.L319F

c.957G>C

1 paper

NM_000527.5

p.L319F

c.957G>T

1 paper

NM_000527.5

p.D320_N322del3

c.958_965del9

3 papers

NM_000527.5

p.D320_L332del13

c.958_995del39

2 papers

NM_000527.5

p.D320_N321insFs

c.960_961insA

1 paper

NM_000527.5

p.N321delFs

c.962delA

2 papers

NM_000527.5

p.N321_K333del13

c.961_998del39

1 paper

NM_000527.5

p.L319*

c.956T>A

1 paper

NM_000527.5

p.L319S

c.956T>C