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.V430L

c.1288G>C

Surrounding Variants

1 paper

NM_000527.5

p.V430_A431insA

c.1288_1292ins3

1 paper

NM_000527.5

p.V430A

c.1289T>C

1 paper

NM_000527.5

p.V430V

c.1290C>A

1 paper

NM_000527.5

p.V429A

c.1286T>C

103 papers

NM_000527.5

p.V429M

c.1285G>A

60 papers

NM_000527.5

p.A431T

c.1291G>A

13 papers

NM_000527.5

p.V429L

c.1285G>C

8 papers

NM_000527.5

p.A431P

c.1291G>C

13 papers

NM_000527.5

p.V429L

c.1285G>T

2 papers

NM_000527.5

p.A431S

c.1291G>T

1 paper

NM_000527.5

p.A431_S444delFs

c.1291_1331del41

10 papers

NM_000527.5

p.N428K

c.1284C>A