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.Q770ins1

c.2308_2309insTGG

Surrounding Variants

2 papers

NM_000527.5

p.Q770*

c.2308C>T

2 papers

NM_000527.5

p.Q770R

c.2309A>G

1 paper

NM_000527.5

p.H769Q

c.2307C>A

1 paper

NM_000527.5

p.H769Q

c.2307C>G

1 paper

NM_000527.5

p.Q770H

c.2310A>C

1 paper

NM_000527.5

p.H769R

c.2306A>G

1 paper

NM_000527.5

p.Q770H

c.2310A>T

2 papers

NM_000527.5

p.H769Y

c.2305C>T

3 papers

NM_000527.5

p.A771T

c.2311G>A

5 papers

NM_000527.5

p.A771V

c.2312C>T

8 papers

NM_000527.5

p.A771Splc

c.2311+1G>A

2 papers

NM_000527.5

p.A771Splc

c.2311+1G>C