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.I290T

c.869T>C

Surrounding Variants

3 papers

NM_000527.5

p.I290S

c.869T>G

1 paper

NM_000527.5

p.I290insFs

c.869_870insC

1 paper

NM_000527.5

p.T291del1

c.871_873delACC

1 paper

NM_000527.5

p.I290_L292delFs

c.870_874del5

1 paper

NM_000527.5

p.I290V

c.868A>G

2 papers

NM_000527.5

p.I290F

c.868A>T

2 papers

NM_000527.5

p.T291P

c.871A>C

2 papers

NM_000527.5

p.T291A

c.871A>G

4 papers

NM_000527.5

p.L292delFs

c.874delC

2 papers

NM_000527.5

p.C289Y

c.866G>A

1 paper

NM_000527.5

p.C289S

c.866G>C

1 paper

NM_000527.5

p.C289S

c.865T>A