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.G549V

c.1646G>T

Surrounding Variants

86 papers

NM_000527.5

p.G549D

c.1646G>A

1 paper

NM_000527.5

p.G549insFs

c.1647dupT

1 paper

NM_000527.5

p.G549R

c.1645G>C

4 papers

NM_000527.5

p.G549insFs

c.1645_1646insC

1 paper

NM_000527.5

p.G549fs

c.1645_1646fs

1 paper

NM_000527.5

p.G549fs

c.1645_1646fs

1 paper

NM_000527.5

p.V550delFs

c.1648delG

2 papers

NM_000527.5

p.V550M

c.1648G>A

1 paper

NM_000527.5

p.V550L

c.1648G>C

1 paper

NM_000527.5

p.V550fs

c.1648_1649fs

3 papers

NM_000527.5

p.N548K

c.1644T>A

3 papers

NM_000527.5

p.N548K

c.1644T>G