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.D466G

c.1397A>G

Surrounding Variants

1 paper

NM_000527.5

p.D466V

c.1397A>T

2 papers

NM_000527.5

p.D466_T467insFs

c.1398_1399insA

1 paper

NM_000527.5

p.T467delFs

c.1399delA

1 paper

NM_000527.5

p.T467delins

c.1399_1400delinsAC

2 papers

NM_000527.5

p.D466insFs

c.1396_1397insA

2 papers

NM_000527.5

p.T467insFs

c.1399_1400insC

1 paper

NM_000527.5

p.T467A

c.1399A>G

1 paper

NM_000527.5

p.T467S

c.1399A>T

1 paper

NM_000527.5

p.Y465*

c.1395T>A

1 paper

NM_000527.5

p.Y465*

c.1395T>G

5 papers

NM_000527.5

p.Y465C

c.1394A>G

1 paper

NM_000527.5

p.T467N

c.1400C>A