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.N645S

c.1934A>G

Surrounding Variants

2 papers

NM_000527.5

p.N645I

c.1934A>T

1 paper

NM_000527.5

p.L646delFs

c.1936delC

2 papers

NM_000527.5

p.N645_L646insC

c.1933_1937ins3

7 papers

NM_000527.5

p.L646I

c.1936C>A

1 paper

NM_000527.5

p.L646L

c.1936C>T

1 paper

NM_000527.5

p.E644G

c.1931A>G

1 paper

NM_000527.5

p.E644V

c.1931A>T

2 papers

NM_000527.5

p.N645_L646del2

c.1933_1937del6

1 paper

NM_000527.5

p.L646P

c.1937T>C

1 paper

NM_000527.5

p.L646R

c.1937T>G

2 papers

NM_000527.5

p.L646_L647insFs

c.1938_1939insC

2 papers

NM_000527.5

p.L646_L647insFs

c.1938_1939insT