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

4 papers

NM_000527.5

p.S59F

c.176C>T

Surrounding Variants

1 paper

NM_000527.5

p.S59Y

c.176C>A

2 papers

NM_000527.5

p.S59S

c.177C>A

2 papers

NM_000527.5

p.S59_Q60insFs

c.177_178insG

1 paper

NM_000527.5

p.S59S

c.177C>G

4 papers

NM_000527.5

p.S59T

c.175T>A

1 paper

NM_000527.5

p.Q60K

c.178C>A

2 papers

NM_000527.5

p.Q60insFs

c.178_179insA

1 paper

NM_000527.5

p.Q60fs

c.178_179fs

3 papers

NM_000527.5

p.Q60*

c.178C>T

2 papers

NM_000527.5

p.Q60fs

c.178_179fs

4 papers

NM_000527.5

p.E58D

c.174G>C

1 paper

NM_000527.5

p.E58_S59insFs

c.174_175insT