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.C284Y

c.851G>A

Surrounding Variants

6 papers

NM_000527.5

p.C284S

c.851G>C

5 papers

NM_000527.5

p.C284S

c.850T>A

5 papers

NM_000527.5

p.C284R

c.850T>C

2 papers

NM_000527.5

p.C284G

c.850T>G

1 paper

NM_000527.5

p.C284fs

c.850_851fs

1 paper

NM_000527.5

p.H285N

c.853C>A

1 paper

NM_000527.5

p.H285D

c.853C>G

4 papers

NM_000527.5

p.H285Y

c.853C>T

3 papers

NM_000527.5

p.K283N

c.849G>C

3 papers

NM_000527.5

p.K283N

c.849G>T

1 paper

NM_000527.5

p.C284del1

c.850_851delTGT

1 paper

NM_000527.5

p.H285R

c.854A>G