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

1 paper

NM_000527.5

p.F530fs

c.1588_1589fs

Surrounding Variants

1 paper

NM_000527.5

p.F530L

c.1588T>C

6 papers

NM_000527.5

p.F530V

c.1588T>G

2 papers

NM_000527.5

p.M531_K543del0

c.1592_1627del36

2 papers

NM_000527.5

p.F530S

c.1589T>C

1 paper

NM_000527.5

p.F530L

c.1590C>A

1 paper

NM_000527.5

p.F530L

c.1590C>G

9 papers

NM_000527.5

p.G529Splc

c.1587-1G>A

2 papers

NM_000527.5

p.G529Splc

c.1587-1G>C

2 papers

NM_000527.5

p.G529Splc

c.1587-1G>T

1 paper

NM_000527.5

p.F530_T538delFs

c.1589_1614del26

3 papers

NM_000527.5

p.G529Splc

c.1587-2A>G

2 papers

NM_000527.5

p.M531V

c.1591A>G