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.T534I

c.1601C>T

Surrounding Variants

7 papers

NM_000527.5

p.T534N

c.1601C>A

1 paper

NM_000527.5

p.T534A

c.1600A>G

11 papers

NM_000527.5

p.W533*

c.1599G>A

4 papers

NM_000527.5

p.D535N

c.1603G>A

2 papers

NM_000527.5

p.D535Y

c.1603G>T

1 paper

NM_000527.5

p.D535A

c.1604A>C

1 paper

NM_000527.5

p.D535G

c.1604A>G

12 papers

NM_000527.5

p.W533*

c.1598G>A

1 paper

NM_000527.5

p.W533_G537delFs

c.1599_1611del13

1 paper

NM_000527.5

p.D535E

c.1605C>A

2 papers

NM_000527.5

p.W536delFs

c.1606delT

6 papers

NM_000527.5

p.W533R

c.1597T>A