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.K262R

c.785A>G

Surrounding Variants

1 paper

NM_000527.5

p.K262insFs

c.785_786insG

1 paper

NM_000527.5

p.K262E

c.784A>G

1 paper

NM_000527.5

p.C261W

c.783C>G

1 paper

NM_000527.5

p.K262delFs

c.784delA

5 papers

NM_000527.5

p.D263N

c.787G>A

1 paper

NM_000527.5

p.D263H

c.787G>C

3 papers

NM_000527.5

p.D263G

c.788A>G

3 papers

NM_000527.5

p.C261Y

c.782G>A

1 paper

NM_000527.5

p.C261S

c.782G>C

14 papers

NM_000527.5

p.C261F

c.782G>T

2 papers

NM_000527.5

p.D263E

c.789C>A

1 paper

NM_000527.5

p.D263E

c.789C>G