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.Q154E

c.460C>G

Surrounding Variants

2 papers

NM_000527.5

p.Q154K

c.460C>A

1 paper

NM_000527.5

p.Q154Fs

c.460_461delinsAAAFs

14 papers

NM_000527.5

p.Q154*

c.460C>T

1 paper

NM_000527.5

p.Q154fs

c.460_461fs

1 paper

NM_000527.5

p.Q154P

c.461A>C

3 papers

NM_000527.5

p.Q154R

c.461A>G

1 paper

NM_000527.5

p.Q154L

c.461A>T

3 papers

NM_000527.5

p.F153L

c.459C>A

5 papers

NM_000527.5

p.F153L

c.459C>G

1 paper

NM_000527.5

p.Q154H

c.462G>C

1 paper

NM_000527.5

p.Q154H

c.462G>T

3 papers

NM_000527.5

p.F153Y

c.458T>A