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.S74R

c.222C>G

Surrounding Variants

2 papers

NM_000527.5

p.S74_C75insFs

c.222_223insT

2 papers

NM_000527.5

p.S74S

c.222C>T

2 papers

NM_000527.5

p.S74N

c.221G>A

1 paper

NM_000527.5

p.S74T

c.221G>C

1 paper

NM_000527.5

p.S74insFs

c.221_222insA

2 papers

NM_000527.5

p.S74I

c.221G>T

8 papers

NM_000527.5

p.C75S

c.223T>A

1 paper

NM_000527.5

p.C75R

c.223T>C

1 paper

NM_000527.5

p.C75G

c.223T>G

2 papers

NM_000527.5

p.C75insFs

c.224_225insG

1 paper

NM_000527.5

p.C75_G76delFs

c.224_227del4

2 papers

NM_000527.5

p.S74R

c.220A>C