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

1 paper

NM_000527.5

p.V765A

c.2294T>C

Surrounding Variants

2 papers

NM_000527.5

p.V765G

c.2294T>G

1 paper

NM_000527.5

p.V765V

c.2295G>A

1 paper

NM_000527.5

p.V765L

c.2293G>C

2 papers

NM_000527.5

p.V765insFs

c.2293_2294insT

1 paper

NM_000527.5

p.V765L

c.2293G>T

2 papers

NM_000527.5

p.T766delFs

c.2296delA

1 paper

NM_000527.5

p.T766delFs

c.2296_2297delAC

4 papers

NM_000527.5

p.T766A

c.2296A>G

1 paper

NM_000527.5

p.I764M

c.2292A>G

1 paper

NM_000527.5

p.T766fs

c.2296_2297fs

2 papers

NM_000527.5

p.T766I

c.2297C>T

5 papers

NM_000527.5

p.M767delFs

c.2299delA