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.S195N

c.584G>A

Surrounding Variants

2 papers

NM_000527.5

p.S195insFs

c.584_585insC

1 paper

NM_000527.5

p.S195I

c.584G>T

1 paper

NM_000527.5

p.P196delFs

c.588delC

4 papers

NM_000527.5

p.S195_P196insT

c.583_587ins3

1 paper

NM_000527.5

p.S195_P196insAT

c.583_587ins6

1 paper

NM_000527.5

p.S195G

c.583A>G

1 paper

NM_000527.5

p.P196_C197del2

c.586_590del6

1 paper

NM_000527.5

p.S195_P196insFs

c.585_586insT

2 papers

NM_000527.5

p.P196T

c.586C>A

1 paper

NM_000527.5

p.P196A

c.586C>G

1 paper

NM_000527.5

p.P196S

c.586C>T

1 paper

NM_000527.5

p.P196H

c.587C>A