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.N439fs

c.1315_1316fs

Surrounding Variants

1 paper

NM_000527.5

p.N439D

c.1315A>G

2 papers

NM_000527.5

p.N439Y

c.1315A>T

1 paper

NM_000527.5

p.N439delFs

c.1316delA

1 paper

NM_000527.5

p.N439_I451del13

c.1315_1352del39

2 papers

NM_000527.5

p.N439K

c.1317T>A

2 papers

NM_000527.5

p.N439K

c.1317T>G

10 papers

NM_000527.5

p.R440G

c.1318A>G

1 paper

NM_000527.5

p.S438G

c.1312A>G

1 paper

NM_000527.5

p.R440*

c.1318A>T

2 papers

NM_000527.5

p.A437_S438insFs

c.1311_1312insA

1 paper

NM_000527.5

p.A437V

c.1310C>T

1 paper

NM_000527.5

p.I441_Y442ins5

c.1321_1325ins15