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.C276S

c.827G>C

Surrounding Variants

4 papers

NM_000527.5

p.C276Y

c.827G>A

2 papers

NM_000527.5

p.C276F

c.827G>T

10 papers

NM_000527.5

p.C276*

c.828C>A

4 papers

NM_000527.5

p.C276W

c.828C>G

3 papers

NM_000527.5

p.C276S

c.826T>A

7 papers

NM_000527.5

p.C276R

c.826T>C

4 papers

NM_000527.5

p.C276G

c.826T>G

2 papers

NM_000527.5

p.L275L

c.825C>T

39 papers

NM_000527.5

p.E277K

c.829G>A

2 papers

NM_000527.5

p.E277Q

c.829G>C

3 papers

NM_000527.5

p.E277*

c.829G>T

1 paper

NM_000527.5

p.E277A

c.830A>C