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

4 papers

NM_000527.5

p.V800_F801Fs

c.2399_2403delinsGGGTFs

Surrounding Variants

4 papers

NM_000527.5

p.V800D

c.2399T>A

1 paper

NM_000527.5

p.V800A

c.2399T>C

5 papers

NM_000527.5

p.F801_L802delFs

c.2403_2406del4

1 paper

NM_000527.5

p.V800_F801insFs

c.2400_2401insG

2 papers

NM_000527.5

p.F801delFs

c.2402delT

3 papers

NM_000527.5

p.V800I

c.2398G>A

2 papers

NM_000527.5

p.V800F

c.2398G>T

4 papers

NM_000527.5

p.V800fs

c.2398_2399fs

1 paper

NM_000527.5

p.F801del1

c.2401_2402delTTC

2 papers

NM_000527.5

p.V800_F801delFs

c.2399_2403del5

2 papers

NM_000527.5

p.L799_V800insFs

c.2397_2398insG

1 paper

NM_000527.5

p.C803_L808ins2

c.2407_2424dup18