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

3 papers

NM_000527.5

p.C128S

c.382T>A

Surrounding Variants

6 papers

NM_000527.5

p.C128R

c.382T>C

2 papers

NM_001195799.2

p.C87G

c.259T>G

NM_000527.5

p.C128G

c.382T>G

1 paper

NM_000527.5

p.V127V

c.381C>T

7 papers

NM_000527.5

p.C128Y

c.383G>A

2 papers

NM_000527.5

p.C128S

c.383G>C

5 papers

NM_000527.5

p.C128F

c.383G>T

5 papers

NM_000527.5

p.V127D

c.380T>A

3 papers

NM_000527.5

p.C128*

c.384T>A

2 papers

NM_000527.5

p.V127A

c.380T>C

2 papers

NM_000527.5

p.V127G

c.380T>G

3 papers

NM_000527.5

p.D129insFs

c.385dupG

7 papers

NM_000527.5

p.D129N

c.385G>A