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

4 papers

NM_000527.5

p.G565R

c.1693G>C

Surrounding Variants

2 papers

NM_000527.5

p.G565S

c.1693G>A

1 paper

NM_000527.5

p.G565fs

c.1693_1694fs

3 papers

NM_000527.5

p.G565D

c.1694G>A

8 papers

NM_000527.5

p.G565A

c.1694G>C

14 papers

NM_000527.5

p.G565V

c.1694G>T

1 paper

NM_000527.5

p.G565_I566delFs

c.1693_1696del4

41 papers

NM_000527.5

p.N564S

c.1691A>G

1 paper

NM_000527.5

p.G565G

c.1695C>T

48 papers

NM_000527.5

p.N564H

c.1690A>C

13 papers

NM_000527.5

p.N564D

c.1690A>G

2 papers

NM_000527.5

p.I566V

c.1696A>G

2 papers

NM_000527.5

p.I566F

c.1696A>T