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.K265Q

c.793A>C

Surrounding Variants

8 papers

NM_002335.4

p.R266C

c.796C>T

1 paper

NM_002335.4

p.R266_T267delFs

c.797_801del5

3 papers

NM_002335.4

p.C263*

c.789C>A

1 paper

NM_002335.4

p.R266L

c.797G>T

1 paper

NM_002335.4

p.T267I

c.800C>T

5 papers

NM_002335.4

p.G268_R271delFs

c.803_812del10

1 paper

NM_002335.4

p.G268fs

c.802_803fs

2 papers

NM_002335.4

p.G268E

c.803G>A

1 paper

NM_002335.4

p.G269fs

c.805_806fs

1 paper

NM_002335.4

p.I260M

c.780C>G

1 paper

NM_002335.4

p.K270R

c.809A>G

2 papers

NM_002335.4

p.R258C

c.772C>T