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.R132fs

c.394_395fs

Surrounding Variants

4 papers

NM_000527.5

p.R132insFs

c.395_396insG

1 paper

NM_000527.5

p.R132G

c.394C>G

4 papers

NM_000527.5

p.R132W

c.394C>T

2 papers

NM_000527.5

p.R132_D133Fs

c.394_397delinsGAFs

2 papers

NM_000527.5

p.D131E

c.393C>A

2 papers

NM_000527.5

p.D131E

c.393C>G

9 papers

NM_000527.5

p.R132Q

c.395G>A

1 paper

NM_000527.5

p.D131A

c.392A>C

4 papers

NM_000527.5

p.D131G

c.392A>G

1 paper

NM_000527.5

p.D131delFs

c.393delC

1 paper

NM_000527.5

p.D133_C134del2

c.397_401del6

7 papers

NM_000527.5

p.D133N

c.397G>A