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.D331G

c.992A>G

Surrounding Variants

1 paper

NM_000527.5

p.D331E

c.993C>A

2 papers

NM_000527.5

p.D331_L332insFs

c.993_994insT

1 paper

NM_000527.5

p.D331E

c.993C>G

1 paper

NM_000527.5

p.N330K

c.990T>A

1 paper

NM_000527.5

p.N330K

c.990T>G

1 paper

NM_000527.5

p.L332P

c.995T>C

2 papers

NM_000527.5

p.N330H

c.988A>C

1 paper

NM_000527.5

p.N330D

c.988A>G

1 paper

NM_000527.5

p.L332_K333Fs

c.996_998delinsGFs

1 paper

NM_000527.5

p.K333E

c.997A>G

2 papers

NM_000527.5

p.K333fs

c.997_998fs

2 papers

NM_000527.5

p.C329*

c.987C>A