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.C325delFs

c.974delG

Surrounding Variants

4 papers

NM_000527.5

p.C325R

c.973T>C

1 paper

NM_000527.5

p.G324G

c.972C>G

13 papers

NM_000527.5

p.C325Y

c.974G>A

2 papers

NM_000527.5

p.C325insFs

c.974_975insT

3 papers

NM_000527.5

p.C325F

c.974G>T

1 paper

NM_000527.5

p.G324D

c.971G>A

11 papers

NM_000527.5

p.G324S

c.970G>A

1 paper

NM_000527.5

p.G324fs

c.970_971fs

2 papers

NM_000527.5

p.G324C

c.970G>T

1 paper

NM_000527.5

p.G324fs

c.970_971fs

4 papers

NM_000527.5

p.S326P

c.976T>C

2 papers

NM_000527.5

p.S326insFs

c.976_977insC