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.D172insFs

c.514_515insA

Surrounding Variants

21 papers

NM_000527.5

p.D172N

c.514G>A

7 papers

NM_000527.5

p.D172H

c.514G>C

5 papers

NM_000527.5

p.D172Y

c.514G>T

2 papers

NM_000527.5

p.D172fs

c.514_515fs

2 papers

NM_000527.5

p.D172_D175delins

c.514_525delinsATG

1 paper

NM_000527.5

p.D172A

c.515A>C

6 papers

NM_000527.5

p.D172G

c.515A>G

1 paper

NM_000527.5

p.D172V

c.515A>T

2 papers

NM_000527.5

p.P171_D172insFs

c.513_514insA

1 paper

NM_000527.5

p.D172_D175ins1

c.516_524dup9

11 papers

NM_000527.5

p.D172E

c.516C>A

1 paper

NM_000527.5

p.P171H

c.512C>A