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.N780Y

c.2338A>T

Surrounding Variants

1 paper

NM_000527.5

p.G779_N780insFs

c.2337_2338ins4

1 paper

NM_000527.5

p.N780S

c.2339A>G

1 paper

NM_000527.5

p.N780_V793del14

c.2338_2378del42

2 papers

NM_000527.5

p.G779insFs

c.2336_2337insA

2 papers

NM_000527.5

p.N780K

c.2340T>G

4 papers

NM_000527.5

p.E781_K783delFs

c.2343_2347del5

1 paper

NM_000527.5

p.K783ins0

c.2347_2349dupAAG

1 paper

NM_000527.5

p.G779fs

c.2335_2336fs

2 papers

NM_000527.5

p.E781_K782insG

c.2341_2345ins3

1 paper

NM_000527.5

p.G779delFs

c.2336_2337delGA

1 paper

NM_000527.5

p.G779fs

c.2335_2336fs

1 paper

NM_000527.5

p.E781G

c.2342A>G