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.C296W

c.888C>G

Surrounding Variants

12 papers

NM_000527.5

p.C296*

c.888C>A

2 papers

NM_000527.5

p.N297delFs

c.889delA

6 papers

NM_000527.5

p.N297H

c.889A>C

1 paper

NM_000527.5

p.N297D

c.889A>G

11 papers

NM_000527.5

p.C296Y

c.887G>A

1 paper

NM_000527.5

p.C296S

c.887G>C

1 paper

NM_000527.5

p.C296F

c.887G>T

1 paper

NM_000527.5

p.C296_N297delins

c.887_889delinsAGC

5 papers

NM_000527.5

p.N297T

c.890A>C

2 papers

NM_000527.5

p.N297S

c.890A>G

1 paper

NM_000527.5

p.C296S

c.886T>A

1 paper

NM_000527.5

p.C296R

c.886T>C