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

1 paper

NM_000527.5

p.E668*

c.2002G>T

Surrounding Variants

1 paper

NM_000527.5

p.E668fs

c.2002_2003fs

1 paper

NM_000527.5

p.E668G

c.2003A>G

3 papers

NM_000527.5

p.C667*

c.2001T>A

4 papers

NM_000527.5

p.C667W

c.2001T>G

2 papers

NM_000527.5

p.C667_E668delins

c.2001_2002delinsGT

25 papers

NM_000527.5

p.C667Y

c.2000G>A

1 paper

NM_000527.5

p.C667S

c.2000G>C

10 papers

NM_000527.5

p.C667F

c.2000G>T

1 paper

NM_000527.5

p.R669_G676del8

c.2005_2027del24

2 papers

NM_000527.5

p.C667delFs

c.2001delT

2 papers

NM_000527.5

p.R669_T670insG

c.2005_2009ins3

2 papers

NM_000527.5

p.R669G

c.2005A>G