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.P144A

c.430C>G

Surrounding Variants

1 paper

NM_000527.5

p.P144insFs

c.430_431insA

1 paper

NM_000527.5

p.P144S

c.430C>T

20 papers

NM_000527.5

p.C143*

c.429C>A

1 paper

NM_000527.5

p.P144Q

c.431C>A

1 paper

NM_000527.5

p.V145insFs

c.433_434insG

3 papers

NM_000527.5

p.C143W

c.429C>G

1 paper

NM_000527.5

p.P144R

c.431C>G

7 papers

NM_000527.5

p.P144L

c.431C>T

14 papers

NM_000527.5

p.C143Y

c.428G>A

7 papers

NM_000527.5

p.C143S

c.428G>C

2 papers

NM_000527.5

p.P144_V145insFs

c.432_433insA

1 paper

NM_000527.5

p.P144insFs

c.431dupC