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

10 papers

NM_000527.5

p.D139H

c.415G>C

Surrounding Variants

12 papers

NM_000527.5

p.D139N

c.415G>A

1 paper

NM_000527.5

p.D139Y

c.415G>T

1 paper

NM_000527.5

p.D139A

c.416A>C

11 papers

NM_000527.5

p.D139G

c.416A>G

4 papers

NM_000527.5

p.D139V

c.416A>T

1 paper

NM_000527.5

p.D139_P144del6

c.415_431del18

12 papers

NM_000527.5

p.D139E

c.417C>A

3 papers

NM_000527.5

p.S138*

c.413C>A

11 papers

NM_000527.5

p.D139E

c.417C>G

5 papers

NM_000527.5

p.S138*

c.413C>G

2 papers

NM_000527.5

p.S138L

c.413C>T

43 papers

NM_000527.5

p.E140K

c.418G>A