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

3 papers

NM_000527.5

p.D118G

c.353A>G

Surrounding Variants

1 paper

NM_000527.5

p.D118A

c.353A>C

1 paper

NM_000527.5

p.D118V

c.353A>T

1 paper

NM_000527.5

p.D118_G119del1

c.354_356delTGG

1 paper

NM_000527.5

p.G119_C121delFs

c.355_361del7

5 papers

NM_000527.5

p.D118N

c.352G>A

17 papers

NM_000527.5

p.D118Y

c.352G>T

5 papers

NM_000527.5

p.D118delFs

c.353delA

2 papers

NM_000527.5

p.G119delFs

c.357delG

1 paper

NM_000527.5

p.H117Q

c.351C>A

6 papers

NM_000527.5

p.G119R

c.355G>A

4 papers

NM_000527.5

p.G119R

c.355G>C

1 paper

NM_000527.5

p.G119fs

c.355_356fs