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

8 papers

NM_000527.5

p.S580F

c.1739C>T

Surrounding Variants

1 paper

NM_000527.5

p.S580Y

c.1739C>A

2 papers

NM_000527.5

p.S580T

c.1738T>A

1 paper

NM_000527.5

p.S580P

c.1738T>C

3 papers

NM_000527.5

p.K581Q

c.1741A>C

1 paper

NM_000527.5

p.K581E

c.1741A>G

1 paper

NM_000527.5

p.K581*

c.1741A>T

1 paper

NM_000527.5

p.D579E

c.1737C>G

3 papers

NM_000527.5

p.D579A

c.1736A>C

5 papers

NM_000527.5

p.D579G

c.1736A>G

1 paper

NM_000527.5

p.D579V

c.1736A>T

1 paper

NM_000527.5

p.D579delFs

c.1737delC

1 paper

NM_000527.5

p.K581N

c.1743A>C