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.N822K

c.2466C>A

Surrounding Variants

1 paper

NM_000527.5

p.N822K

c.2466C>G

2 papers

NM_000527.5

p.F823_D824insT

c.2467_2471ins3

1 paper

NM_000527.5

p.N822fs

c.2464_2465fs

1 paper

NM_000527.5

p.F823Y

c.2468T>A

1 paper

NM_000527.5

p.I821I

c.2463C>A

1 paper

NM_000527.5

p.F823F

c.2469T>C

2 papers

NM_000527.5

p.D824N

c.2470G>A

1 paper

NM_000527.5

p.D824D

c.2472C>T

3 papers

NM_000527.5

p.N825D

c.2473A>G

1 paper

NM_000527.5

p.P826_T831delFs

c.2477_2493del17

5 papers

NM_000527.5

p.S820N

c.2459G>A

2 papers

NM_000527.5

p.P826_V827insFs

c.2478_2479insC