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.S217G

c.649A>G

Surrounding Variants

1 paper

NM_002335.4

p.K215E

c.643A>G

48 papers

NM_002335.4

p.A214V

c.641C>T

37 papers

NM_002335.4

p.A214T

c.640G>A

3 papers

NM_002335.4

p.D213D

c.639C>T

1 paper

NM_002335.4

p.H220_R221insFs

c.660_661insCA

1 paper

NM_002335.4

p.R221C

c.661C>T

1 paper

NM_002335.4

p.A212D

c.635C>A

2 papers

NM_002335.4

p.A212P

c.634G>C

1 paper

NM_002335.4

p.W211*

c.633G>A

1 paper

NM_002335.4

p.A222_N223insFs

c.666_667insA

2 papers

NM_002335.4

p.W211*

c.632G>A

1 paper

NM_002335.4

p.N223insFs

c.668_669dupAC