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

7 papers

NM_000527.5

p.L759fs

c.2275_2276fs

Surrounding Variants

1 paper

NM_000527.5

p.L759fs

c.2275_2276fs

1 paper

NM_000527.5

p.L759_S768delFs

c.2275_2302del28

2 papers

NM_000527.5

p.L759P

c.2276T>C

1 paper

NM_000527.5

p.G758A

c.2273G>C

1 paper

NM_000527.5

p.G758V

c.2273G>T

2 papers

NM_000527.5

p.T760insFs

c.2278_2279insC

1 paper

NM_000527.5

p.T760A

c.2278A>G

1 paper

NM_000527.5

p.G758delFs

c.2274delG

10 papers

NM_000527.5

p.P757delFs

c.2271delT

1 paper

NM_000527.5

p.T761A

c.2281A>G

1 paper

NM_000527.5

p.T761fs

c.2281_2282fs

1 paper

NM_000527.5

p.P757fs

c.2269_2270fs