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

48 papers

NM_002335.4

p.A214V

c.641C>T

Surrounding Variants

37 papers

NM_002335.4

p.A214T

c.640G>A

1 paper

NM_002335.4

p.K215E

c.643A>G

3 papers

NM_002335.4

p.D213D

c.639C>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.S217G

c.649A>G

1 paper

NM_002335.4

p.W211*

c.633G>A

2 papers

NM_002335.4

p.W211*

c.632G>A

1 paper

NM_002335.4

p.W211R

c.631T>C

1 paper

NM_002335.4

p.W211_A212del2

c.631_635del6

1 paper

NM_002335.4

p.Y210C

c.629A>G

1 paper

NM_002335.4

p.Y210insFs

c.628_629insA