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.D221_E228ins2

c.663_683dup21

Surrounding Variants

1 paper

NM_000527.5

p.D221_C222ins0

c.661_666dup6

1 paper

NM_000527.5

p.P220R

c.659C>G

1 paper

NM_000527.5

p.P220L

c.659C>T

1 paper

NM_000527.5

p.P220_S226delFs

c.660_676del17

1 paper

NM_000527.5

p.D221_C222insFs

c.662_665dup4

3 papers

NM_000527.5

p.D221_K225insFs

c.661_673dup13

4 papers

NM_000527.5

p.C222_D227ins2

c.664_681dup18

1 paper

NM_000527.5

p.P220fs

c.658_659fs

1 paper

NM_000527.5

p.P220A

c.658C>G

1 paper

NM_000527.5

p.P220S

c.658C>T

1 paper

NM_000527.5

p.P220fs

c.658_659fs

28 papers

NM_000527.5

p.D221N

c.661G>A