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.G278R

c.832G>C

Surrounding Variants

1 paper

NM_000527.5

p.G278R

c.832G>A

1 paper

NM_000527.5

p.G278*

c.832G>T

1 paper

NM_000527.5

p.G278E

c.833G>A

1 paper

NM_000527.5

p.E277D

c.831G>C

2 papers

NM_000527.5

p.G278insFs

c.833_834insA

2 papers

NM_000527.5

p.E277D

c.831G>T

1 paper

NM_000527.5

p.P279insFs

c.837dupC

1 paper

NM_000527.5

p.E277A

c.830A>C

1 paper

NM_000527.5

p.E277G

c.830A>G

4 papers

NM_000527.5

p.E277V

c.830A>T

2 papers

NM_000527.5

p.P279S

c.835C>T

39 papers

NM_000527.5

p.E277K

c.829G>A