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

70 papers

NM_000527.5

p.E101K

c.301G>A

Surrounding Variants

1 paper

NM_000527.5

p.E101Q

c.301G>C

1 paper

NM_000527.5

p.E101fs

c.301_302fs

2 papers

NM_000527.5

p.E101*

c.301G>T

3 papers

NM_000527.5

p.E101fs

c.301_302fs

1 paper

NM_000527.5

p.E101A

c.302A>C

5 papers

NM_000527.5

p.E101G

c.302A>G

3 papers

NM_000527.5

p.E101V

c.302A>T

4 papers

NM_000527.5

p.E101delFs

c.303delG

5 papers

NM_000527.5

p.D100E

c.300C>A

5 papers

NM_000527.5

p.D100E

c.300C>G

4 papers

NM_000527.5

p.D100D

c.300C>T

3 papers

NM_000527.5

p.E101delFs

c.301delG