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.P181S

c.541C>T

Surrounding Variants

1 paper

NM_000527.5

p.P181A

c.541C>G

1 paper

NM_000527.5

p.P181Q

c.542C>A

1 paper

NM_000527.5

p.Q182insFs

c.544_545ins5

16 papers

NM_000527.5

p.P181R

c.542C>G

12 papers

NM_000527.5

p.P181L

c.542C>T

2 papers

NM_000527.5

p.W180*

c.540G>A

1 paper

NM_000527.5

p.W180C

c.540G>C

1 paper

NM_000527.5

p.W180C

c.540G>T

3 papers

NM_000527.5

p.W180*

c.539G>A

1 paper

NM_000527.5

p.W180S

c.539G>C

1 paper

NM_000527.5

p.W180L

c.539G>T

1 paper

NM_000527.5

p.P181del1

c.541_543delCCG