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.Q660*

c.1978C>T

Surrounding Variants

2 papers

NM_000527.5

p.Q660K

c.1978C>A

1 paper

NM_000527.5

p.Q660P

c.1979A>C

7 papers

NM_000527.5

p.Q660R

c.1979A>G

4 papers

NM_000527.5

p.T659T

c.1977C>A

3 papers

NM_000527.5

p.T659N

c.1976C>A

2 papers

NM_000527.5

p.Q660Q

c.1980G>A

1 paper

NM_000527.5

p.Q660H

c.1980G>C

1 paper

NM_000527.5

p.Q660H

c.1980G>T

5 papers

NM_000527.5

p.T659P

c.1975A>C

1 paper

NM_000527.5

p.T659A

c.1975A>G

1 paper

NM_000527.5

p.Q660delFs

c.1978delC

1 paper

NM_000527.5

p.T659fs

c.1975_1976fs