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.R565H

c.1694G>A

Surrounding Variants

1 paper

NM_002335.4

p.R565insFs

c.1695dupC

1 paper

NM_002335.4

p.R566H

c.1697G>A

1 paper

NM_002335.4

p.Q564*

c.1690C>T

3 papers

NM_002335.4

p.I568N

c.1703T>A

1 paper

NM_002335.4

p.I568I

c.1704C>T

2 papers

NM_002335.4

p.E569K

c.1705G>A

1 paper

NM_002335.4

p.T561I

c.1682C>T

31 papers

NM_002335.4

p.R570W

c.1708C>T

4 papers

NM_002335.4

p.W560C

c.1680G>C

5 papers

NM_002335.4

p.W560C

c.1680G>T

19 papers

NM_002335.4

p.R570Q

c.1709G>A

2 papers

NM_002335.4

p.Y559*

c.1677C>A