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

12 papers

NM_000527.5

p.C184R

c.550T>C

Surrounding Variants

3 papers

NM_000527.5

p.C184S

c.550T>A

1 paper

NM_000527.5

p.C184G

c.550T>G

1 paper

NM_000527.5

p.C184_R185delins

c.550_553delinsG

39 papers

NM_000527.5

p.C184Y

c.551G>A

3 papers

NM_000527.5

p.C184S

c.551G>C

2 papers

NM_000527.5

p.C184F

c.551G>T

2 papers

NM_000527.5

p.C184_R185Fs

c.551_553delinsTTFs

3 papers

NM_000527.5

p.R183H

c.548G>A

1 paper

NM_000527.5

p.R183P

c.548G>C

1 paper

NM_000527.5

p.R183L

c.548G>T

4 papers

NM_000527.5

p.C184W

c.552T>G

2 papers

NM_000527.5

p.C184_R185insFs

c.552_553insC