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.D342Y

c.1024G>T

Surrounding Variants

8 papers

NM_000527.5

p.D342N

c.1024G>A

1 paper

NM_000527.5

p.D342H

c.1024G>C

1 paper

NM_000527.5

p.D342fs

c.1024_1025fs

2 papers

NM_000527.5

p.D342insFs

c.1025_1026insC

2 papers

NM_000527.5

p.D342G

c.1025A>G

3 papers

NM_000527.5

p.D342E

c.1026C>A

2 papers

NM_000527.5

p.D342_G343insFs

c.1026_1027insT

3 papers

NM_000527.5

p.P341R

c.1022C>G

3 papers

NM_000527.5

p.D342E

c.1026C>G

2 papers

NM_000527.5

p.P341L

c.1022C>T

49 papers

NM_000527.5

p.G343S

c.1027G>A

11 papers

NM_000527.5

p.G343C

c.1027G>T