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

3 papers

NM_000527.5

p.W6insFs

c.17_18insG

Surrounding Variants

1 paper

NM_000527.5

p.W6R

c.16T>A

1 paper

NM_000527.5

p.W6G

c.16T>G

1 paper

NM_000527.5

p.W6delFs

c.18delG

2 papers

NM_000527.5

p.W6fs

c.16_17fs

4 papers

NM_000527.5

p.G5G

c.15C>A

1 paper

NM_000527.5

p.W6ins0

c.16_18dupTGG

3 papers

NM_000527.5

p.W6*

c.17G>A

1 paper

NM_000527.5

p.W6S

c.17G>C

1 paper

NM_000527.5

p.G5D

c.14G>A

1 paper

NM_000527.5

p.W6*

c.18G>A

1 paper

NM_000527.5

p.W6C

c.18G>C

1 paper

NM_000527.5

p.K7insFs

c.20dupA