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.P661T

c.1981C>A

Surrounding Variants

1 paper

NM_000527.5

p.P661_R662ins5

c.1981_1985ins15

1 paper

NM_000527.5

p.P661A

c.1981C>G

1 paper

NM_000527.5

p.P661S

c.1981C>T

1 paper

NM_000527.5

p.R662insFs

c.1984dupA

3 papers

NM_000527.5

p.P661L

c.1982C>T

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

1 paper

NM_000527.5

p.Q660P

c.1979A>C

7 papers

NM_000527.5

p.Q660R

c.1979A>G

1 paper

NM_000527.5

p.R662G

c.1984A>G

1 paper

NM_000527.5

p.R662fs

c.1984_1985fs