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.K730fs

c.2188_2189fs

Surrounding Variants

2 papers

NM_000527.5

p.V731_A735insFs

c.2191_2203dup13

2 papers

NM_000527.5

p.K730fs

c.2188_2189fs

1 paper

NM_000527.5

p.K730T

c.2189A>C

9 papers

NM_000527.5

p.V731delFs

c.2191delG

1 paper

NM_000527.5

p.K730N

c.2190G>T

1 paper

NM_000527.5

p.L729P

c.2186T>C

1 paper

NM_000527.5

p.L729L

c.2185C>T

3 papers

NM_000527.5

p.L729fs

c.2185_2186fs

1 paper

NM_000527.5

p.V731insFs

c.2191_2192ins13

1 paper

NM_000527.5

p.V731_A735insFs

c.2192_2204dup13

4 papers

NM_000527.5

p.V731fs

c.2191_2192fs

1 paper

NM_000527.5

p.V731A

c.2192T>C