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

3 papers

NM_000527.5

p.D301E

c.903C>A

Surrounding Variants

2 papers

NM_000527.5

p.D301_C302insFs

c.903_904insA

2 papers

NM_000527.5

p.D301E

c.903C>G

5 papers

NM_000527.5

p.D301A

c.902A>C

18 papers

NM_000527.5

p.D301G

c.902A>G

1 paper

NM_000527.5

p.D301V

c.902A>T

3 papers

NM_000527.5

p.C302R

c.904T>C

3 papers

NM_000527.5

p.C302G

c.904T>G

2 papers

NM_000527.5

p.C302insFs

c.904_905insA

2 papers

NM_000527.5

p.C302delFs

c.905delG

2 papers

NM_000527.5

p.C302fs

c.904_905fs

3 papers

NM_000527.5

p.C302Y

c.905G>A

1 paper

NM_000527.5

p.D301N

c.901G>A