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.D221E

c.663C>G

Surrounding Variants

1 paper

NM_000527.5

p.D221E

c.663C>A

3 papers

NM_000527.5

p.D221D

c.663C>T

1 paper

NM_000527.5

p.D221insFs

c.662_663ins5

1 paper

NM_000527.5

p.D221A

c.662A>C

80 papers

NM_000527.5

p.D221G

c.662A>G

1 paper

NM_000527.5

p.D221V

c.662A>T

1 paper

NM_000527.5

p.C222S

c.664T>A

21 papers

NM_000527.5

p.C222R

c.664T>C

2 papers

NM_000527.5

p.C222G

c.664T>G

1 paper

NM_000527.5

p.C222_D224insFs

c.666_670dup5

2 papers

NM_000527.5

p.C222_K223insT

c.664_668ins3

1 paper

NM_000527.5

p.C222_D224del0

c.665_670del6