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.S127T

c.379T>A

Surrounding Variants

1 paper

NM_002335.4

p.E128V

c.383A>T

1 paper

NM_002335.4

p.T125T

c.375G>A

1 paper

NM_002335.4

p.W124C

c.372G>C

1 paper

NM_002335.4

p.W124C

c.372G>T

1 paper

NM_002335.4

p.N130Y

c.388A>T

1 paper

NM_002335.4

p.R131C

c.391C>T

1 paper

NM_002335.4

p.R131H

c.392G>A

1 paper

NM_002335.4

p.K121N

c.363G>C

1 paper

NM_002335.4

p.K121R

c.362A>G

1 paper

NM_002335.4

p.K120E

c.358A>G

1 paper

NM_002335.4

p.V134L

c.400G>T

2 papers

NM_002335.4

p.V118L

c.352G>T