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

2 papers

NM_000527.5

p.S584F

c.1751C>T

Surrounding Variants

1 paper

NM_000527.5

p.I585insFs

c.1753_1754insA

1 paper

NM_000527.5

p.I585delFs

c.1753delA

7 papers

NM_000527.5

p.S584P

c.1750T>C

1 paper

NM_000527.5

p.S584fs

c.1750_1751fs

2 papers

NM_000527.5

p.S584_I585insC

c.1750_1754ins3

4 papers

NM_000527.5

p.S584delFs

c.1751delC

1 paper

NM_000527.5

p.S584fs

c.1750_1751fs

2 papers

NM_000527.5

p.I585L

c.1753A>C

2 papers

NM_000527.5

p.I585V

c.1753A>G

2 papers

NM_000527.5

p.H583Q

c.1749C>A

2 papers

NM_000527.5

p.H583Q

c.1749C>G

7 papers

NM_000527.5

p.H583R

c.1748A>G