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

6 papers

NM_000527.5

p.D834fs

c.2500_2501fs

Surrounding Variants

3 papers

NM_000527.5

p.D834N

c.2500G>A

1 paper

NM_000527.5

p.D834insFs

c.2500_2501insC

2 papers

NM_000527.5

p.D834fs

c.2500_2501fs

2 papers

NM_000527.5

p.D834Fs

c.2500_2502delinsCFs

2 papers

NM_000527.5

p.E833D

c.2499G>C

2 papers

NM_000527.5

p.E833D

c.2499G>T

2 papers

NM_000527.5

p.D834del1

c.2500_2502delGAT

2 papers

NM_000527.5

p.D834delFs

c.2500delG

1 paper

NM_000527.5

p.D834_E835insFs

c.2502_2503insA

1 paper

NM_000527.5

p.E835K

c.2503G>A

2 papers

NM_000527.5

p.E833_D834insA

c.2497_2501ins3

1 paper

NM_000527.5

p.E835*

c.2503G>T