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.G119_K120ins5

c.355_359ins15

Surrounding Variants

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

1 paper

NM_000527.5

p.G119insFs

c.355_356insT

2 papers

NM_000527.5

p.G119insFs

c.355_356ins4

1 paper

NM_000527.5

p.G119fs

c.355_356fs

1 paper

NM_000527.5

p.G119E

c.356G>A

3 papers

NM_000527.5

p.G119A

c.356G>C

1 paper

NM_000527.5

p.G119V

c.356G>T

2 papers

NM_000527.5

p.G119delFs

c.357delG

1 paper

NM_000527.5

p.D118A

c.353A>C

3 papers

NM_000527.5

p.D118G

c.353A>G