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

64 papers

NM_000527.5

p.D90N

c.268G>A

Surrounding Variants

15 papers

NM_000527.5

p.D90Y

c.268G>T

2 papers

NM_000527.5

p.D90insFs

c.269_270insT

6 papers

NM_000527.5

p.D90A

c.269A>C

22 papers

NM_000527.5

p.D90G

c.269A>G

1 paper

NM_000527.5

p.D90delFs

c.270delT

1 paper

NM_000527.5

p.G91_C104del14

c.271_311del42

1 paper

NM_000527.5

p.C89*

c.267C>A

14 papers

NM_000527.5

p.C89W

c.267C>G

2 papers

NM_000527.5

p.C89C

c.267C>T

20 papers

NM_000527.5

p.C89Y

c.266G>A

8 papers

NM_000527.5

p.C89S

c.266G>C

1 paper

NM_000527.5

p.C89F

c.266G>T