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.D356E

c.1068T>A

Surrounding Variants

2 papers

NM_000527.5

p.D356E

c.1068T>G

1 paper

NM_000527.5

p.E357insFs

c.1070_1071dupAG

1 paper

NM_000527.5

p.E357_D362ins2

c.1069_1086dup18

1 paper

NM_000527.5

p.E357insFs

c.1069_1070ins14

1 paper

NM_000527.5

p.D356insFs

c.1067_1068ins4

3 papers

NM_000527.5

p.D356A

c.1067A>C

1 paper

NM_000527.5

p.D356G

c.1067A>G

7 papers

NM_000527.5

p.D356V

c.1067A>T

12 papers

NM_000527.5

p.E357K

c.1069G>A

1 paper

NM_000527.5

p.E357Q

c.1069G>C

4 papers

NM_000527.5

p.E357*

c.1069G>T

1 paper

NM_000527.5

p.E357delFs

c.1070delA