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.C270S

c.808T>A

Surrounding Variants

6 papers

NM_000527.5

p.C270R

c.808T>C

1 paper

NM_000527.5

p.G269G

c.807C>T

9 papers

NM_000527.5

p.C270Y

c.809G>A

1 paper

NM_000527.5

p.C270S

c.809G>C

1 paper

NM_000527.5

p.C270F

c.809G>T

9 papers

NM_000527.5

p.C270*

c.810C>A

1 paper

NM_000527.5

p.C270C

c.810C>T

15 papers

NM_000527.5

p.G269D

c.806G>A

1 paper

NM_000527.5

p.G269insFs

c.807dupC

11 papers

NM_000527.5

p.V271I

c.811G>A

4 papers

NM_000527.5

p.G269S

c.805G>A

2 papers

NM_000527.5

p.G269R

c.805G>C