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.N487T

c.1460A>C

Surrounding Variants

4 papers

NM_000527.5

p.N487S

c.1460A>G

1 paper

NM_000527.5

p.N487D

c.1459A>G

1 paper

NM_000527.5

p.I488V

c.1462A>G

2 papers

NM_000527.5

p.I488F

c.1462A>T

2 papers

NM_000527.5

p.I488delins

c.1462_1464delinsTGT

2 papers

NM_000527.5

p.S486N

c.1457G>A

1 paper

NM_000527.5

p.N487_T491insFs

c.1459_1472dup14

5 papers

NM_000527.5

p.I488N

c.1463T>A

12 papers

NM_000527.5

p.I488T

c.1463T>C

5 papers

NM_000527.5

p.I488S

c.1463T>G

3 papers

NM_000527.5

p.S486G

c.1456A>G

4 papers

NM_000527.5

p.H485Q

c.1455C>A