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.G529S

c.1585G>A

Surrounding Variants

6 papers

NM_000527.5

p.G529R

c.1585G>C

10 papers

NM_000527.5

p.G529D

c.1586G>A

5 papers

NM_000527.5

p.G529V

c.1586G>T

1 paper

NM_000527.5

p.H528_G529insFs

c.1584_1585ins4

1 paper

NM_000527.5

p.H528R

c.1583A>G

14 papers

NM_000527.5

p.G529Splc

c.1586+1G>A

2 papers

NM_000527.5

p.G529Splc

c.1586+1G>T

1 paper

NM_000527.5

p.G529Splc

c.1586+2T>A

3 papers

NM_000527.5

p.G529Splc

c.1586+2T>C

4 papers

NM_000527.5

p.V527A

c.1580T>C

21 papers

NM_000527.5

p.G529Splc

c.1586+5G>A

1 paper

NM_000527.5

p.V527I

c.1579G>A