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.N625T

c.1874A>C

Surrounding Variants

2 papers

NM_000527.5

p.N625K

c.1875C>A

2 papers

NM_000527.5

p.N625K

c.1875C>G

2 papers

NM_000527.5

p.N625N

c.1875C>T

12 papers

NM_000527.5

p.E626K

c.1876G>A

2 papers

NM_000527.5

p.E626insFs

c.1876_1877insA

4 papers

NM_000527.5

p.E626delFs

c.1878delA

1 paper

NM_000527.5

p.E626G

c.1877A>G

1 paper

NM_000527.5

p.I624T

c.1871T>C

3 papers

NM_000527.5

p.I624delFs

c.1872delC

1 paper

NM_000527.5

p.I624V

c.1870A>G

1 paper

NM_000527.5

p.I624insFs

c.1870dupA

49 papers

NM_000527.5

p.A627T

c.1879G>A