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.D72E

c.216C>A

Surrounding Variants

1 paper

NM_000527.5

p.D72_F73insFs

c.216_217insA

1 paper

NM_000527.5

p.D72E

c.216C>G

1 paper

NM_000527.5

p.D72A

c.215A>C

4 papers

NM_000527.5

p.D72G

c.215A>G

3 papers

NM_000527.5

p.F73L

c.217T>C

2 papers

NM_000527.5

p.D72N

c.214G>A

1 paper

NM_000527.5

p.D72fs

c.214_215fs

2 papers

NM_000527.5

p.D72fs

c.214_215fs

1 paper

NM_000527.5

p.F73S

c.218T>C

2 papers

NM_000527.5

p.F73C

c.218T>G

3 papers

NM_000527.5

p.F73L

c.219C>A

3 papers

NM_000527.5

p.F73L

c.219C>G