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

2 papers

NM_000527.5

p.I628_F629insFs

c.1884_1885insGA

Surrounding Variants

2 papers

NM_000527.5

p.I628T

c.1883T>C

1 paper

NM_000527.5

p.F629L

c.1885T>C

3 papers

NM_000527.5

p.F629V

c.1885T>G

2 papers

NM_000527.5

p.F629insFs

c.1885_1886insA

1 paper

NM_000527.5

p.F629insFs

c.1885_1886insCA

5 papers

NM_000527.5

p.F629fs

c.1885_1886fs

2 papers

NM_000527.5

p.F629_S630delins

c.1885_1889delinsGATCATCAACC

1 paper

NM_000527.5

p.I628fs

c.1882_1883fs

5 papers

NM_000527.5

p.F629delFs

c.1886delT

1 paper

NM_000527.5

p.F629S

c.1886T>C

2 papers

NM_000527.5

p.F629C

c.1886T>G

1 paper

NM_000527.5

p.F629L

c.1887C>A