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

38 papers

NM_000527.5

p.G20R

c.58G>A

Surrounding Variants

35 papers

NM_000527.5

p.G20R

c.58G>C

2 papers

NM_000527.5

p.G20W

c.58G>T

4 papers

NM_000527.5

p.G20E

c.59G>A

2 papers

NM_000527.5

p.A19A

c.57G>A

1 paper

NM_000527.5

p.G20A

c.59G>C

2 papers

NM_000527.5

p.A19_G20insFs

c.57_58insC

1 paper

NM_000527.5

p.G20V

c.59G>T

1 paper

NM_000527.5

p.G20Fs

c.59delinsTCFs

1 paper

NM_000527.5

p.G20_T21del2

c.58_62del6

1 paper

NM_000527.5

p.A19E

c.56C>A

2 papers

NM_000527.5

p.A19insFs

c.56_57insG

4 papers

NM_000527.5

p.A19G

c.56C>G