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.D525Y

c.1573G>T

Surrounding Variants

3 papers

NM_000527.5

p.D525N

c.1573G>A

1 paper

NM_000527.5

p.D525A

c.1574A>C

1 paper

NM_000527.5

p.D525G

c.1574A>G

4 papers

NM_000527.5

p.D525V

c.1574A>T

9 papers

NM_000527.5

p.D525E

c.1575T>A

1 paper

NM_000527.5

p.V524A

c.1571T>C

1 paper

NM_000527.5

p.D525D

c.1575T>C

9 papers

NM_000527.5

p.D525E

c.1575T>G

4 papers

NM_000527.5

p.V524G

c.1571T>G

4 papers

NM_000527.5

p.P526T

c.1576C>A

17 papers

NM_000527.5

p.P526S

c.1576C>T

4 papers

NM_000527.5

p.V524M

c.1570G>A