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

2 papers

NM_000527.5

p.F153delins

c.457_459delinsAAG

Surrounding Variants

3 papers

NM_000527.5

p.F153I

c.457T>A

3 papers

NM_000527.5

p.F153L

c.457T>C

6 papers

NM_000527.5

p.F153V

c.457T>G

1 paper

NM_000527.5

p.F153fs

c.457_458fs

1 paper

NM_000527.5

p.S152R

c.456C>A

1 paper

NM_000527.5

p.S152R

c.456C>G

3 papers

NM_000527.5

p.F153Y

c.458T>A

6 papers

NM_000527.5

p.F153S

c.458T>C

4 papers

NM_000527.5

p.F153C

c.458T>G

3 papers

NM_000527.5

p.F153delFs

c.459delC

3 papers

NM_000527.5

p.F153L

c.459C>A

5 papers

NM_000527.5

p.F153L

c.459C>G