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

3 papers

NM_000527.5

p.E174*

c.520G>T

Surrounding Variants

6 papers

NM_000527.5

p.E174K

c.520G>A

1 paper

NM_000527.5

p.E174Q

c.520G>C

2 papers

NM_000527.5

p.E174insFs

c.521_522insG

1 paper

NM_000527.5

p.E174A

c.521A>C

2 papers

NM_000527.5

p.E174G

c.521A>G

2 papers

NM_000527.5

p.E174V

c.521A>T

2 papers

NM_000527.5

p.C173*

c.519C>A

18 papers

NM_000527.5

p.C173W

c.519C>G

1 paper

NM_000527.5

p.E174D

c.522A>C

1 paper

NM_000527.5

p.E174E

c.522A>G

11 papers

NM_000527.5

p.E174D

c.522A>T

5 papers

NM_000527.5

p.C173Y

c.518G>A