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.D169Y

c.505G>T

Surrounding Variants

1 paper

NM_002335.4

p.T168R

c.503C>G

3 papers

NM_002335.4

p.W170_E172ins1

c.509_514dup6

4 papers

NM_002335.4

p.G171_E172del0

c.511_516del6

32 papers

NM_002335.4

p.G171R

c.511G>C

145 papers

NM_002335.4

p.G171V

c.512G>T

1 paper

NM_002335.4

p.T173A

c.517A>G

26 papers

NM_002335.4

p.T173M

c.518C>T

1 paper

NM_002335.4

p.P174L

c.521C>T

1 paper

NM_002335.4

p.G163Splc

c.489-2A>C

1 paper

NM_002335.4

p.G163Splc

c.489-2A>G

1 paper

NM_002335.4

p.R175W

c.523C>T

1 paper

NM_002335.4

p.I176V

c.526A>G