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

4 papers

NM_000527.5

p.C216_D217delFs

c.648_649delTG

Surrounding Variants

2 papers

NM_000527.5

p.R215_C216insFs

c.645_646insG

2 papers

NM_000527.5

p.R215_C216insFs

c.645_646insT

15 papers

NM_000527.5

p.R215H

c.644G>A

2 papers

NM_000527.5

p.R215_C216insFs

c.645_646insC

2 papers

NM_000527.5

p.R215_C216delFs

c.645_646delCT

3 papers

NM_000527.5

p.C216S

c.646T>A

9 papers

NM_000527.5

p.C216R

c.646T>C

1 paper

NM_000527.5

p.C216_G219del0

c.648_656del9

3 papers

NM_000527.5

p.R215S

c.643C>A

9 papers

NM_000527.5

p.R215C

c.643C>T

6 papers

NM_000527.5

p.C216Y

c.647G>A

3 papers

NM_000527.5

p.C216S

c.647G>C