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.R706G

c.2116A>G

Surrounding Variants

1 paper

NM_000527.5

p.R706insFs

c.2116_2117insC

2 papers

NM_000527.5

p.R706insFs

c.2116_2117insG

3 papers

NM_000527.5

p.R706fs

c.2116_2117fs

1 paper

NM_000527.5

p.R706M

c.2117G>T

1 paper

NM_000527.5

p.A705G

c.2114C>G

3 papers

NM_000527.5

p.D707N

c.2119G>A

1 paper

NM_000527.5

p.A705T

c.2113G>A

12 papers

NM_000527.5

p.A705P

c.2113G>C

1 paper

NM_000527.5

p.D707H

c.2119G>C

1 paper

NM_000527.5

p.A705insFs

c.2114dupC

8 papers

NM_000527.5

p.A705S

c.2113G>T

2 papers

NM_000527.5

p.D707Y

c.2119G>T