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.G149D

c.446G>A

Surrounding Variants

1 paper

NM_000527.5

p.G149A

c.446G>C

2 papers

NM_000527.5

p.G149insFs

c.446_447insA

1 paper

NM_000527.5

p.G149V

c.446G>T

2 papers

NM_000527.5

p.G149S

c.445G>A

3 papers

NM_000527.5

p.G149R

c.445G>C

2 papers

NM_000527.5

p.G149fs

c.445_446fs

7 papers

NM_000527.5

p.G149C

c.445G>T

3 papers

NM_000527.5

p.G149G

c.447T>C

3 papers

NM_000527.5

p.P150insFs

c.450dupC

1 paper

NM_000527.5

p.P150del1

c.448_449delCCC

1 paper

NM_000527.5

p.P150fs

c.448_449fs

1 paper

NM_000527.5

p.P150A

c.448C>G