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.L16R

c.47T>G

Surrounding Variants

2 papers

NM_000527.5

p.L16H

c.47T>A

7 papers

NM_000527.5

p.L16P

c.47T>C

4 papers

NM_000527.5

p.L16L

c.48C>A

3 papers

NM_000527.5

p.L16I

c.46C>A

1 paper

NM_000527.5

p.L16_A17ins5

c.46_50ins15

4 papers

NM_000527.5

p.L16V

c.46C>G

1 paper

NM_000527.5

p.L16F

c.46C>T

1 paper

NM_000527.5

p.L15L

c.45C>T

1 paper

NM_000527.5

p.A17T

c.49G>A

1 paper

NM_000527.5

p.A17P

c.49G>C

1 paper

NM_000527.5

p.A17insFs

c.51dupC

1 paper

NM_000527.5

p.A17S

c.49G>T