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.V836V

c.2508C>T

Surrounding Variants

1 paper

NM_000527.5

p.H837fs

c.2509_2510fs

2 papers

NM_000527.5

p.V836insFs

c.2507_2508insC

2 papers

NM_000527.5

p.V836insFs

c.2507_2508insG

2 papers

NM_000527.5

p.H837delFs

c.2509delC

2 papers

NM_000527.5

p.H837insFs

c.2510_2511insC

6 papers

NM_000527.5

p.H837R

c.2510A>G

3 papers

NM_000527.5

p.V836I

c.2506G>A

3 papers

NM_000527.5

p.E835A

c.2504A>C

2 papers

NM_000527.5

p.I838V

c.2512A>G

1 paper

NM_000527.5

p.E835K

c.2503G>A

1 paper

NM_000527.5

p.E835*

c.2503G>T

1 paper

NM_000527.5

p.D834_E835insFs

c.2502_2503insA