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.N280insFs

c.839_840insG

Surrounding Variants

1 paper

NM_000527.5

p.N280Fs

c.839delinsGGFs

1 paper

NM_000527.5

p.N280D

c.838A>G

1 paper

NM_000527.5

p.N280K

c.840C>A

2 papers

NM_000527.5

p.N280_K281insFs

c.840_841insG

1 paper

NM_000527.5

p.K281E

c.841A>G

1 paper

NM_000527.5

p.N280_K283insFs

c.839_848dup10

1 paper

NM_000527.5

p.P279H

c.836C>A

1 paper

NM_000527.5

p.P279L

c.836C>T

2 papers

NM_000527.5

p.P279S

c.835C>T

1 paper

NM_000527.5

p.K281_F282insFs

c.843_844ins4

1 paper

NM_000527.5

p.P279insFs

c.837dupC

13 papers

NM_000527.5

p.F282L

c.844T>C