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.G314Splc

c.940+1G>A

Surrounding Variants

2 papers

NM_000527.5

p.G314Splc

c.940+1G>C

7 papers

NM_000527.5

p.G314V

c.941G>T

14 papers

NM_000527.5

p.G314R

c.940G>A

NM_001195800.2

p.G146R

c.436G>A

12 papers

NM_000527.5

p.G314R

c.940G>C

1 paper

NM_000527.5

p.G314Splc

c.940+2T>A

6 papers

NM_000527.5

p.G314Splc

c.940+2T>C

1 paper

NM_000527.5

p.G314Splc

c.940+2T>G

21 papers

NM_000527.5

p.C313*

c.939C>A

2 papers

NM_000527.5

p.C313_G314insFs

c.939_940insG

6 papers

NM_000527.5

p.C313W

c.939C>G

18 papers

NM_000527.5

p.C313Y

c.938G>A

1 paper

NM_000527.5

p.C313S

c.938G>C