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

35 papers

NM_000527.5

p.D589N

c.1765G>A

Surrounding Variants

2 papers

NM_000527.5

p.D589H

c.1765G>C

2 papers

NM_000527.5

p.D589Y

c.1765G>T

2 papers

NM_000527.5

p.D589insFs

c.1766_1767insC

2 papers

NM_000527.5

p.I588_D589insFs

c.1764_1765insA

1 paper

NM_000527.5

p.I588T

c.1763T>C

1 paper

NM_000527.5

p.V590_G592del0

c.1769_1774del6

1 paper

NM_000527.5

p.I588V

c.1762A>G

1 paper

NM_000527.5

p.V590I

c.1768G>A

5 papers

NM_000527.5

p.S587R

c.1761C>A

6 papers

NM_000527.5

p.S587R

c.1761C>G

1 paper

NM_000527.5

p.V590A

c.1769T>C

1 paper

NM_000527.5

p.N591_R595delFs

c.1771_1784del14