Varaico: Literature-Extracted Genetic Variants

LRP5

1,013 papers

RefSeq Summary

This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Fri...

Pfam Domains

Ldl_recept_baa 120–160UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 163–204UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 207–245UCSCLow-density lipoprotein receptor repeat class B

FXa_inhibitionaa 299–336UCSCCoagulation Factor Xa inhibitory site

Gene Aliases

HGNC Name

LDL receptor related protein 5

HGNC Previous Symbols

LRP7; OPPG; EVR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002335.4

p.L204Q

c.611T>A

Surrounding Variants

1 paper

NM_002335.4

p.E205K

c.613G>A

1 paper

NM_002335.4

p.D203A

c.608A>C

8 papers

NM_002335.4

p.D203N

c.607G>A

1 paper

NM_002335.4

p.Q207_K208del1

c.621_623delGAA

1 paper

NM_002335.4

p.Q207_A214delFs

c.621_642del22

1 paper

NM_002335.4

p.L200V

c.598C>G

1 paper

NM_002335.4

p.L200L

c.598C>T

1 paper

NM_002335.4

p.L209I

c.625C>A

1 paper

NM_002335.4

p.G199V

c.596G>T

1 paper

NM_002335.4

p.Y210insFs

c.628_629insA

18 papers

NM_002335.4

p.N198S

c.593A>G

1 paper

NM_002335.4

p.Y210C

c.629A>G