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.W4_G5delFs

c.12_15del4

Surrounding Variants

22 papers

NM_000527.5

p.W4*

c.11G>A

28 papers

NM_000527.5

p.W4*

c.12G>A

1 paper

NM_000527.5

p.W4C

c.12G>C

1 paper

NM_000527.5

p.G5ins0

c.13_15dupGGC

2 papers

NM_000527.5

p.G5_L16del12

c.13_47del36

1 paper

NM_000527.5

p.W4G

c.10T>G

5 papers

NM_000527.5

p.G5insFs

c.14dupG

3 papers

NM_000527.5

p.W4fs

c.10_11fs

1 paper

NM_000527.5

p.W4_G5insT

c.10_14ins3

1 paper

NM_000527.5

p.W4insFs

c.10_11ins4

2 papers

NM_000527.5

p.W4fs

c.10_11fs

1 paper

NM_000527.5

p.W4_G5delFs

c.11_14del4