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.E58Q

c.172G>C

Surrounding Variants

5 papers

NM_000527.5

p.E58K

c.172G>A

2 papers

NM_000527.5

p.S59insFs

c.176_177ins4

1 paper

NM_000527.5

p.E58*

c.172G>T

1 paper

NM_000527.5

p.E58fs

c.172_173fs

8 papers

NM_000527.5

p.E58G

c.173A>G

6 papers

NM_000527.5

p.E58V

c.173A>T

1 paper

NM_000527.5

p.D57E

c.171T>A

1 paper

NM_000527.5

p.D57D

c.171T>C

1 paper

NM_000527.5

p.D57E

c.171T>G

2 papers

NM_000527.5

p.D57A

c.170A>C

2 papers

NM_000527.5

p.D57G

c.170A>G

4 papers

NM_000527.5

p.E58D

c.174G>C