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.H250H

c.750T>C

Surrounding Variants

1 paper

NM_000527.5

p.H250Q

c.750T>A

1 paper

NM_000527.5

p.H250Q

c.750T>G

1 paper

NM_000527.5

p.G251insFs

c.752dupG

1 paper

NM_000527.5

p.G251delFs

c.752delG

1 paper

NM_000527.5

p.S252_Q254delFs

c.756_762del7

4 papers

NM_000527.5

p.H250R

c.749A>G

1 paper

NM_000527.5

p.G251S

c.751G>A

1 paper

NM_000527.5

p.H250N

c.748C>A

1 paper

NM_000527.5

p.H250D

c.748C>G

1 paper

NM_000527.5

p.H250delFs

c.749_750delAT

1 paper

NM_000527.5

p.G251D

c.752G>A

1 paper

NM_000527.5

p.G251V

c.752G>T