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

7 papers

NM_000527.5

p.C318F

c.953G>T

Surrounding Variants

3 papers

NM_000527.5

p.C318Y

c.953G>A

1 paper

NM_000527.5

p.C318W

c.954C>G

7 papers

NM_000527.5

p.C318R

c.952T>C

2 papers

NM_000527.5

p.C318_L319insC

c.952_956ins3

1 paper

NM_000527.5

p.E317G

c.950A>G

1 paper

NM_000527.5

p.L319*

c.956T>A

1 paper

NM_000527.5

p.L319S

c.956T>C

18 papers

NM_000527.5

p.E317K

c.949G>A

1 paper

NM_000527.5

p.L319F

c.957G>C

1 paper

NM_000527.5

p.E317insFs

c.949_950insA

6 papers

NM_000527.5

p.E317*

c.949G>T

1 paper

NM_000527.5

p.L319F

c.957G>T