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.A232Splc

c.694+3A>T

Surrounding Variants

16 papers

NM_000527.5

p.A232Splc

c.694+2T>C

1 paper

NM_000527.5

p.A232Splc

c.694+2T>G

1 paper

NM_000527.5

p.A232Splc

c.694+4T>G

1 paper

NM_000527.5

p.A232V

c.695C>T

4 papers

NM_000527.5

p.A232Splc

c.694+1G>A

2 papers

NM_000527.5

p.A232Splc

c.694+1G>C

5 papers

NM_000527.5

p.A232Splc

c.694+1G>T

2 papers

NM_000527.5

p.A232T

c.694G>A

1 paper

NM_000527.5

p.A232S

c.694G>T

20 papers

NM_000527.5

p.C231*

c.693C>A

4 papers

NM_000527.5

p.C231W

c.693C>G

3 papers

NM_000527.5

p.C231Y

c.692G>A