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.C116_H117insFs

c.348_349insA

Surrounding Variants

1 paper

NM_000527.5

p.H117_R124insFs

c.350_372dup23

2 papers

NM_000527.5

p.H117Y

c.349C>T

4 papers

NM_000527.5

p.C116Y

c.347G>A

2 papers

NM_000527.5

p.C116S

c.347G>C

5 papers

NM_000527.5

p.C116F

c.347G>T

1 paper

NM_000527.5

p.H117delFs

c.349delC

1 paper

NM_000527.5

p.H117_D118insFs

c.351_352ins4

2 papers

NM_000527.5

p.H117R

c.350A>G

1 paper

NM_000527.5

p.H117L

c.350A>T

2 papers

NM_000527.5

p.C116S

c.346T>A

19 papers

NM_000527.5

p.C116R

c.346T>C

4 papers

NM_000527.5

p.C116_H117del1

c.347_349delGCC