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

47 papers

NM_000527.5

p.D482N

c.1444G>A

Surrounding Variants

20 papers

NM_000527.5

p.D482H

c.1444G>C

3 papers

NM_000527.5

p.D482_W483insC

c.1444_1448ins3

4 papers

NM_000527.5

p.D482Y

c.1444G>T

1 paper

NM_000527.5

p.D482A

c.1445A>C

4 papers

NM_000527.5

p.D482G

c.1445A>G

2 papers

NM_000527.5

p.D482_W483delins

c.1446_1449delinsG

1 paper

NM_000527.5

p.V481V

c.1443G>A

1 paper

NM_000527.5

p.V481V

c.1443G>C

1 paper

NM_000527.5

p.D482_I488del7

c.1444_1463del21

1 paper

NM_000527.5

p.D482E

c.1446C>A

2 papers

NM_000527.5

p.D482E

c.1446C>G

2 papers

NM_000527.5

p.V481A

c.1442T>C