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

10 papers

NM_000527.5

p.L605L

c.1813C>T

Surrounding Variants

2 papers

NM_000527.5

p.L605V

c.1813C>G

1 paper

NM_000527.5

p.L605_F609delFs

c.1815_1825del11

2 papers

NM_000527.5

p.L605P

c.1814T>C

2 papers

NM_000527.5

p.L605R

c.1814T>G

2 papers

NM_000527.5

p.L605insFs

c.1814_1815insG

1 paper

NM_000527.5

p.R604Fs

c.1811delinsCTFs

2 papers

NM_000527.5

p.R604insFs

c.1810_1811insG

1 paper

NM_000527.5

p.R604G

c.1810A>G

1 paper

NM_000527.5

p.R604fs

c.1810_1811fs

25 papers

NM_000527.5

p.A606T

c.1816G>A

2 papers

NM_000527.5

p.H607insFs

c.1819_1820insC

13 papers

NM_000527.5

p.A606S

c.1816G>T