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.H690P

c.2069A>C

Surrounding Variants

1 paper

NM_000527.5

p.H690R

c.2069A>G

1 paper

NM_000527.5

p.H690fs

c.2068_2069fs

2 papers

NM_000527.5

p.H690_S691insA

c.2068_2072ins3

3 papers

NM_000527.5

p.H690D

c.2068C>G

2 papers

NM_000527.5

p.H690H

c.2070C>T

1 paper

NM_000527.5

p.H690fs

c.2068_2069fs

1 paper

NM_000527.5

p.S691_K693del3

c.2071_2078del9

1 paper

NM_000527.5

p.S691P

c.2071T>C

5 papers

NM_000527.5

p.S691*

c.2072C>A

1 paper

NM_000527.5

p.S691W

c.2072C>G

8 papers

NM_000527.5

p.S691L

c.2072C>T

1 paper

NM_000527.5

p.P692insFs

c.2076dupC