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.A166V

c.497C>T

Surrounding Variants

2 papers

NM_000527.5

p.A166D

c.497C>A

1 paper

NM_000527.5

p.A166G

c.497C>G

1 paper

NM_000527.5

p.A166Fs

c.497delinsGGATCCCCCAGFs

1 paper

NM_000527.5

p.A166Fs

c.497delinsGGATCCCCCAGCTGCATCCCCCAGFs

1 paper

NM_000527.5

p.A166Fs

c.497delinsGGATCCCCCAGCTGCTACCCCCAGFs

1 paper

NM_000527.5

p.C167del1

c.499_501delTGC

3 papers

NM_000527.5

p.A166A

c.498C>T

1 paper

NM_000527.5

p.A166P

c.496G>C

2 papers

NM_000527.5

p.A166Fs

c.497delinsGGATCCCCFs

1 paper

NM_000527.5

p.A166delins

c.497delinsGGATCCCCCAGCTGCATCC

1 paper

NM_000527.5

p.A166Fs

c.497delinsGGATCCCCCAGCTGCATCCCCFs

1 paper

NM_000527.5

p.A166fs

c.496_497fs