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

2 papers

NM_000527.5

p.G76V

c.227G>T

Surrounding Variants

1 paper

NM_000527.5

p.G76E

c.227G>A

8 papers

NM_000527.5

p.G76R

c.226G>A

11 papers

NM_000527.5

p.G76R

c.226G>C

3 papers

NM_000527.5

p.G76G

c.228G>C

12 papers

NM_000527.5

p.G76W

c.226G>T

4 papers

NM_000527.5

p.G77S

c.229G>A

1 paper

NM_000527.5

p.G77fs

c.229_230fs

1 paper

NM_000527.5

p.C75*

c.225T>A

1 paper

NM_000527.5

p.C75C

c.225T>C

7 papers

NM_000527.5

p.C75W

c.225T>G

7 papers

NM_000527.5

p.G77insFs

c.230dupG

3 papers

NM_000527.5

p.G77delFs

c.230delG