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.C27Y

c.80G>A

Surrounding Variants

1 paper

NM_000527.5

p.C27S

c.80G>C

1 paper

NM_000527.5

p.C27F

c.80G>T

1 paper

NM_000527.5

p.C27delins

c.80_81delinsAA

1 paper

NM_000527.5

p.C27delFs

c.81delC

6 papers

NM_000527.5

p.C27*

c.81C>A

61 papers

NM_000527.5

p.C27W

c.81C>G

23 papers

NM_000527.5

p.C27C

c.81C>T

1 paper

NM_000527.5

p.C27S

c.79T>A

5 papers

NM_000527.5

p.C27R

c.79T>C

2 papers

NM_000527.5

p.C27G

c.79T>G

1 paper

NM_000527.5

p.C27insFs

c.80dupG

2 papers

NM_000527.5

p.C27delins

c.79_81delinsCGT