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

9 papers

NM_000527.5

p.K509E

c.1525A>G

Surrounding Variants

2 papers

NM_000527.5

p.K509_T510insC

c.1525_1529ins3

2 papers

NM_000527.5

p.K509*

c.1525A>T

1 paper

NM_000527.5

p.K509R

c.1526A>G

2 papers

NM_000527.5

p.R508_K509insFs

c.1524_1525insA

1 paper

NM_000527.5

p.R508T

c.1523G>C

1 paper

NM_000527.5

p.K509_T510del2

c.1525_1529del6

1 paper

NM_000527.5

p.T510fs

c.1528_1529fs

2 papers

NM_000527.5

p.R508_K509insC

c.1522_1526ins3

1 paper

NM_000527.5

p.T510P

c.1528A>C

1 paper

NM_000527.5

p.R508G

c.1522A>G

1 paper

NM_000527.5

p.T510A

c.1528A>G

1 paper

NM_000527.5

p.T510delFs

c.1529delC