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.C34Y

c.101G>A

Surrounding Variants

7 papers

NM_000527.5

p.C34S

c.101G>C

1 paper

NM_000527.5

p.C34insFs

c.101_102insAA

1 paper

NM_000527.5

p.C34F

c.101G>T

2 papers

NM_000527.5

p.C34*

c.102C>A

2 papers

NM_000527.5

p.C34_Q35insFs

c.102_103insA

1 paper

NM_000527.5

p.C34_Q35insFs

c.102_103insAA

5 papers

NM_000527.5

p.C34W

c.102C>G

1 paper

NM_000527.5

p.C34C

c.102C>T

1 paper

NM_000527.5

p.Q35_K43del9

c.103_128del27

7 papers

NM_000527.5

p.C34S

c.100T>A

7 papers

NM_000527.5

p.C34R

c.100T>C

19 papers

NM_000527.5

p.C34G

c.100T>G