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.C95Y

c.284G>A

Surrounding Variants

6 papers

NM_000527.5

p.C95S

c.284G>C

1 paper

NM_000527.5

p.C95insFs

c.284_285insA

9 papers

NM_000527.5

p.C95F

c.284G>T

1 paper

NM_000527.5

p.D96_E101del0

c.287_301del15

13 papers

NM_000527.5

p.C95*

c.285C>A

4 papers

NM_000527.5

p.C95W

c.285C>G

1 paper

NM_000527.5

p.C95C

c.285C>T

7 papers

NM_000527.5

p.C95S

c.283T>A

23 papers

NM_000527.5

p.C95R

c.283T>C

14 papers

NM_000527.5

p.C95G

c.283T>G

2 papers

NM_000527.5

p.D94E

c.282C>A

5 papers

NM_000527.5

p.D96N

c.286G>A