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.A437T

c.1309G>A

Surrounding Variants

1 paper

NM_000527.5

p.A437V

c.1310C>T

2 papers

NM_000527.5

p.A437_S438insFs

c.1311_1312insA

13 papers

NM_000527.5

p.V436A

c.1307T>C

2 papers

NM_000527.5

p.V436G

c.1307T>G

1 paper

NM_000527.5

p.A437insFs

c.1309dupG

1 paper

NM_000527.5

p.S438G

c.1312A>G

1 paper

NM_000527.5

p.V436M

c.1306G>A

2 papers

NM_000527.5

p.V436L

c.1306G>T

1 paper

NM_000527.5

p.N439_I451del13

c.1315_1352del39

2 papers

NM_000527.5

p.E435insFs

c.1304_1305insG

3 papers

NM_000527.5

p.E435G

c.1304A>G

1 paper

NM_000527.5

p.N439delFs

c.1316delA