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

41 papers

NM_000527.5

p.Q254P

c.761A>C

Surrounding Variants

1 paper

NM_000527.5

p.Q254R

c.761A>G

1 paper

NM_000527.5

p.Q254insFs

c.760_761insA

7 papers

NM_000527.5

p.Q254E

c.760C>G

7 papers

NM_000527.5

p.Q254*

c.760C>T

3 papers

NM_000527.5

p.Q254H

c.762G>C

5 papers

NM_000527.5

p.Q254H

c.762G>T

4 papers

NM_000527.5

p.C255S

c.763T>A

14 papers

NM_000527.5

p.C255R

c.763T>C

6 papers

NM_000527.5

p.C255G

c.763T>G

2 papers

NM_000527.5

p.C255insFs

c.763_764insC

6 papers

NM_000527.5

p.C255Y

c.764G>A

2 papers

NM_000527.5

p.R253Q

c.758G>A