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

26 papers

NM_000527.5

p.V653V

c.1959T>C

Surrounding Variants

12 papers

NM_000527.5

p.L654_H656del3

c.1960_1967del9

2 papers

NM_000527.5

p.L654_F655insG

c.1960_1964ins3

3 papers

NM_000527.5

p.L654F

c.1960C>T

1 paper

NM_000527.5

p.V653A

c.1958T>C

3 papers

NM_000527.5

p.V653G

c.1958T>G

1 paper

NM_000527.5

p.V653I

c.1957G>A

1 paper

NM_000527.5

p.L654_F655insFs

c.1961_1965dup5

5 papers

NM_000527.5

p.V653F

c.1957G>T

2 papers

NM_000527.5

p.L654P

c.1961T>C

1 paper

NM_000527.5

p.F655_N657del3

c.1963_1970del9

3 papers

NM_000527.5

p.F655delFs

c.1963delT

12 papers

NM_000527.5

p.M652T

c.1955T>C