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.K543E

c.1627A>G

Surrounding Variants

1 paper

NM_000527.5

p.K543_D551del0

c.1629_1652del24

1 paper

NM_000527.5

p.K543delFs

c.1628delA

1 paper

NM_000527.5

p.K543N

c.1629G>C

2 papers

NM_000527.5

p.K544_G545insFs

c.1632_1633insA

1 paper

NM_000527.5

p.K543N

c.1629G>T

1 paper

NM_000527.5

p.K544delFs

c.1632delA

5 papers

NM_000527.5

p.I542N

c.1625T>A

1 paper

NM_000527.5

p.I542T

c.1625T>C

3 papers

NM_000527.5

p.I542S

c.1625T>G

1 paper

NM_000527.5

p.K544_G545ins5

c.1630_1634ins15

3 papers

NM_000527.5

p.I542V

c.1624A>G

1 paper

NM_000527.5

p.K544E

c.1630A>G