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.S138A

c.412T>G

Surrounding Variants

2 papers

NM_000527.5

p.S138P

c.412T>C

1 paper

NM_000527.5

p.S138_D139delFs

c.414_417del4

3 papers

NM_000527.5

p.S138*

c.413C>A

1 paper

NM_000527.5

p.G137G

c.411C>A

5 papers

NM_000527.5

p.S138*

c.413C>G

2 papers

NM_000527.5

p.S138L

c.413C>T

1 paper

NM_000527.5

p.D139_P144del6

c.415_431del18

2 papers

NM_000527.5

p.G137D

c.410G>A

1 paper

NM_000527.5

p.G137A

c.410G>C

3 papers

NM_000527.5

p.G137V

c.410G>T

16 papers

NM_000527.5

p.G137S

c.409G>A

12 papers

NM_000527.5

p.D139N

c.415G>A