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

3 papers

NM_000527.5

p.C39delins

c.116_117delinsAA

Surrounding Variants

2 papers

NM_000527.5

p.C39Y

c.116G>A

3 papers

NM_000527.5

p.C39S

c.116G>C

3 papers

NM_000527.5

p.C39F

c.116G>T

5 papers

NM_000527.5

p.C39*

c.117C>A

2 papers

NM_000527.5

p.C39W

c.117C>G

2 papers

NM_000527.5

p.C39C

c.117C>T

10 papers

NM_000527.5

p.I40delFs

c.118delA

1 paper

NM_000527.5

p.C39S

c.115T>A

6 papers

NM_000527.5

p.C39R

c.115T>C

1 paper

NM_000527.5

p.C39G

c.115T>G

1 paper

NM_000527.5

p.C39insFs

c.115_116insA

1 paper

NM_000527.5

p.C39insFs

c.116dupG