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.L479fs

c.1435_1436fs

Surrounding Variants

2 papers

NM_000527.5

p.L479insFs

c.1435_1436insT

3 papers

NM_000527.5

p.L479V

c.1435C>G

1 paper

NM_000527.5

p.G478G

c.1434G>A

1 paper

NM_000527.5

p.A480_W483delFs

c.1439_1449del11

3 papers

NM_000527.5

p.L479Q

c.1436T>A

21 papers

NM_000527.5

p.L479P

c.1436T>C

5 papers

NM_000527.5

p.G478E

c.1433G>A

1 paper

NM_000527.5

p.G478V

c.1433G>T

45 papers

NM_000527.5

p.G478R

c.1432G>A

2 papers

NM_000527.5

p.A480T

c.1438G>A

38 papers

NM_000527.5

p.G478R

c.1432G>C

2 papers

NM_000527.5

p.A480P

c.1438G>C