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.D57H

c.169G>C

Surrounding Variants

5 papers

NM_000527.5

p.D57N

c.169G>A

2 papers

NM_000527.5

p.D57A

c.170A>C

2 papers

NM_000527.5

p.D57G

c.170A>G

2 papers

NM_000527.5

p.S56S

c.168T>A

1 paper

NM_000527.5

p.S56S

c.168T>C

2 papers

NM_000527.5

p.D57_T62delFs

c.171_184del14

1 paper

NM_000527.5

p.S56Y

c.167C>A

1 paper

NM_000527.5

p.S56C

c.167C>G

6 papers

NM_000527.5

p.S56F

c.167C>T

4 papers

NM_000527.5

p.D57_E58del1

c.171_173delTGA

1 paper

NM_000527.5

p.D57E

c.171T>A

1 paper

NM_000527.5

p.D57D

c.171T>C