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.L292insFs

c.875dupT

Surrounding Variants

1 paper

NM_000527.5

p.L292P

c.875T>C

1 paper

NM_000527.5

p.D293insFs

c.877dupG

5 papers

NM_000527.5

p.D293delFs

c.877delG

2 papers

NM_000527.5

p.L292_D293insFs

c.876_877insA

2 papers

NM_000527.5

p.T291P

c.871A>C

2 papers

NM_000527.5

p.T291A

c.871A>G

4 papers

NM_000527.5

p.L292delFs

c.874delC

1 paper

NM_000527.5

p.D293N

c.877G>A

1 paper

NM_000527.5

p.D293delFs

c.878delA

1 paper

NM_000527.5

p.D293fs

c.877_878fs

1 paper

NM_000527.5

p.D293G

c.878A>G

1 paper

NM_000527.5

p.K294delFs

c.880delA