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.C167S

c.499T>A

Surrounding Variants

11 papers

NM_000527.5

p.C167R

c.499T>C

1 paper

NM_000527.5

p.C167G

c.499T>G

1 paper

NM_000527.5

p.C167_D168ins7

c.499_503ins21

2 papers

NM_000527.5

p.C167_D168del1

c.500_502delGCG

3 papers

NM_000527.5

p.A166A

c.498C>T

9 papers

NM_000527.5

p.C167Y

c.500G>A

1 paper

NM_000527.5

p.C167S

c.500G>C

2 papers

NM_000527.5

p.C167F

c.500G>T

2 papers

NM_000527.5

p.C167delins

c.500_501delinsTA

37 papers

NM_000527.5

p.C167*

c.501C>A

2 papers

NM_000527.5

p.A166D

c.497C>A

7 papers

NM_000527.5

p.C167W

c.501C>G