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.V578F

c.1732G>T

Surrounding Variants

7 papers

NM_000527.5

p.V578I

c.1732G>A

7 papers

NM_000527.5

p.W577*

c.1731G>A

14 papers

NM_000527.5

p.W577C

c.1731G>C

18 papers

NM_000527.5

p.W577C

c.1731G>T

9 papers

NM_000527.5

p.V578A

c.1733T>C

8 papers

NM_000527.5

p.W577*

c.1730G>A

12 papers

NM_000527.5

p.W577S

c.1730G>C

9 papers

NM_000527.5

p.D579N

c.1735G>A

7 papers

NM_000527.5

p.D579Y

c.1735G>T

26 papers

NM_000527.5

p.W577R

c.1729T>A

36 papers

NM_000527.5

p.W577R

c.1729T>C

13 papers

NM_000527.5

p.W577G

c.1729T>G