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

41 papers

NM_000527.5

p.T726I

c.2177C>T

Surrounding Variants

1 paper

NM_000527.5

p.T726A

c.2176A>G

1 paper

NM_000527.5

p.T726delFs

c.2178delC

3 papers

NM_000527.5

p.V727_R728insFs

c.2180_2184dup5

1 paper

NM_000527.5

p.V727I

c.2179G>A

1 paper

NM_000527.5

p.S725C

c.2174C>G

1 paper

NM_000527.5

p.V727A

c.2180T>C

1 paper

NM_000527.5

p.S725P

c.2173T>C

1 paper

NM_000527.5

p.S725fs

c.2173_2174fs

1 paper

NM_000527.5

p.S725delFs

c.2175delC

1 paper

NM_000527.5

p.R728G

c.2182A>G

2 papers

NM_000527.5

p.R728delFs

c.2184delG

2 papers

NM_000527.5

p.T724insFs

c.2171_2172insA