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.P171L

c.512C>T

Surrounding Variants

1 paper

NM_000527.5

p.P171H

c.512C>A

1 paper

NM_000527.5

p.P171R

c.512C>G

2 papers

NM_000527.5

p.P171_D172insFs

c.513_514insA

1 paper

NM_000527.5

p.D172_D175ins1

c.516_524dup9

2 papers

NM_000527.5

p.P171fs

c.511_512fs

1 paper

NM_000527.5

p.P171A

c.511C>G

5 papers

NM_000527.5

p.P171S

c.511C>T

3 papers

NM_000527.5

p.D170E

c.510C>A

3 papers

NM_000527.5

p.D170E

c.510C>G

1 paper

NM_000527.5

p.P171_C184del14

c.511_551del42

21 papers

NM_000527.5

p.D172N

c.514G>A

7 papers

NM_000527.5

p.D172H

c.514G>C