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.W577_S580del0

c.1730_1738del9

Surrounding Variants

1 paper

NM_000527.5

p.Y576N

c.1726T>A

2 papers

NM_000527.5

p.Y576H

c.1726T>C

3 papers

NM_000527.5

p.Y576fs

c.1726_1727fs

5 papers

NM_000527.5

p.Y576S

c.1727A>C

5 papers

NM_000527.5

p.Y576C

c.1727A>G

1 paper

NM_000527.5

p.L575L

c.1725C>G

24 papers

NM_000527.5

p.L575L

c.1725C>T

2 papers

NM_000527.5

p.Y576delFs

c.1726delT

2 papers

NM_000527.5

p.L575P

c.1724T>C

11 papers

NM_000527.5

p.L575F

c.1723C>T

26 papers

NM_000527.5

p.W577R

c.1729T>A

36 papers

NM_000527.5

p.W577R

c.1729T>C