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.C115F

c.344G>T

Surrounding Variants

1 paper

NM_002335.4

p.C115S

c.344G>C

1 paper

NM_002335.4

p.C115S

c.343T>A

2 papers

NM_002335.4

p.D116N

c.346G>A

1 paper

NM_002335.4

p.W117*

c.350G>A

1 paper

NM_002335.4

p.L113H

c.338T>A

2 papers

NM_002335.4

p.W117*

c.351G>A

2 papers

NM_002335.4

p.V118L

c.352G>T

1 paper

NM_002335.4

p.G112_K121insFs

c.336_361dup26

3 papers

NM_002335.4

p.G112V

c.335G>T

1 paper

NM_002335.4

p.G112fs

c.334_335fs

1 paper

NM_002335.4

p.D111D

c.333C>T

1 paper

NM_002335.4

p.G112_A114delFs

c.334_340del7