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

2 papers

NM_000527.5

p.N428delFs

c.1284delC

Surrounding Variants

5 papers

NM_000527.5

p.N428T

c.1283A>C

4 papers

NM_000527.5

p.N428S

c.1283A>G

1 paper

NM_000527.5

p.N428D

c.1282A>G

1 paper

NM_000527.5

p.N428fs

c.1282_1283fs

10 papers

NM_000527.5

p.N428K

c.1284C>A

13 papers

NM_000527.5

p.N428K

c.1284C>G

103 papers

NM_000527.5

p.V429M

c.1285G>A

13 papers

NM_000527.5

p.V429L

c.1285G>C

13 papers

NM_000527.5

p.V429L

c.1285G>T

1 paper

NM_000527.5

p.A431_S444delFs

c.1291_1331del41

2 papers

NM_000527.5

p.R427K

c.1280G>A

1 paper

NM_000527.5

p.N428_V429delFs

c.1282_1285del4