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.T539T

c.1617C>T

Surrounding Variants

1 paper

NM_002335.4

p.L540F

c.1618C>T

6 papers

NM_002335.4

p.L540P

c.1619T>C

2 papers

NM_002335.4

p.L540L

c.1620C>A

2 papers

NM_002335.4

p.L540L

c.1620C>G

2 papers

NM_002335.4

p.R538W

c.1612C>T

2 papers

NM_002335.4

p.L541P

c.1622T>C

7 papers

NM_002335.4

p.T535M

c.1604C>T

1 paper

NM_002335.4

p.G534G

c.1602G>A

1 paper

NM_002335.4

p.L545F

c.1633C>T

1 paper

NM_002335.4

p.V532V

c.1596T>C

1 paper

NM_002335.4

p.H547_I548insFs

c.1641_1642insG

6 papers

NM_002335.4

p.N531I

c.1592A>T