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

5 papers

NM_000527.5

p.W490C

c.1470G>T

Surrounding Variants

13 papers

NM_000527.5

p.W490*

c.1470G>A

5 papers

NM_000527.5

p.W490C

c.1470G>C

1 paper

NM_000527.5

p.T491insFs

c.1471dupA

3 papers

NM_000527.5

p.T491A

c.1471A>G

9 papers

NM_000527.5

p.W490*

c.1469G>A

1 paper

NM_000527.5

p.W490L

c.1469G>T

3 papers

NM_000527.5

p.T491N

c.1472C>A

11 papers

NM_000527.5

p.W490R

c.1468T>A

12 papers

NM_000527.5

p.W490R

c.1468T>C

5 papers

NM_000527.5

p.W490G

c.1468T>G

9 papers

NM_000527.5

p.Y489*

c.1467C>A

11 papers

NM_000527.5

p.Y489*

c.1467C>G