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

2 papers

NM_000527.5

p.N247S

c.740A>G

Surrounding Variants

1 paper

NM_000527.5

p.N247D

c.739A>G

1 paper

NM_000527.5

p.N247Y

c.739A>T

2 papers

NM_000527.5

p.C248S

c.742T>A

2 papers

NM_000527.5

p.C248R

c.742T>C

7 papers

NM_000527.5

p.C248G

c.742T>G

6 papers

NM_000527.5

p.C248Y

c.743G>A

4 papers

NM_000527.5

p.G246E

c.737G>A

2 papers

NM_000527.5

p.C248S

c.743G>C

2 papers

NM_000527.5

p.G246insFs

c.737_738insA

2 papers

NM_000527.5

p.G246V

c.737G>T

1 paper

NM_000527.5

p.C248F

c.743G>T

3 papers

NM_000527.5

p.G246R

c.736G>A