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

9 papers

NM_000527.5

p.C63R

c.187T>C

Surrounding Variants

2 papers

NM_000527.5

p.C63G

c.187T>G

1 paper

NM_000527.5

p.C63Fs

c.187delinsTGFs

1 paper

NM_000527.5

p.C63fs

c.187_188fs

2 papers

NM_000527.5

p.C63_L64insCTG

c.187_191ins9

2 papers

NM_000527.5

p.T62T

c.186G>A

2 papers

NM_000527.5

p.C63Y

c.188G>A

5 papers

NM_000527.5

p.C63F

c.188G>T

2 papers

NM_000527.5

p.C63delFs

c.187delT

1 paper

NM_000527.5

p.T62K

c.185C>A

1 paper

NM_000527.5

p.C63*

c.189C>A

1 paper

NM_000527.5

p.T62R

c.185C>G

27 papers

NM_000527.5

p.T62M

c.185C>T