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.S152delFs

c.455delG

Surrounding Variants

1 paper

NM_000527.5

p.S152R

c.454A>C

2 papers

NM_000527.5

p.S152G

c.454A>G

2 papers

NM_000527.5

p.S152C

c.454A>T

3 papers

NM_000527.5

p.F153_C155del0

c.457_465del9

6 papers

NM_000527.5

p.S152N

c.455G>A

1 paper

NM_000527.5

p.S152I

c.455G>T

1 paper

NM_000527.5

p.A151D

c.452C>A

1 paper

NM_000527.5

p.S152R

c.456C>A

1 paper

NM_000527.5

p.A151G

c.452C>G

1 paper

NM_000527.5

p.S152R

c.456C>G

1 paper

NM_000527.5

p.A151V

c.452C>T

6 papers

NM_000527.5

p.A151T

c.451G>A