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

2 papers

NM_002335.4

p.R142Q

c.425G>A

Surrounding Variants

1 paper

NM_002335.4

p.R142W

c.424C>T

1 paper

NM_002335.4

p.V144L

c.430G>T

12 papers

NM_002335.4

p.L145F

c.433C>T

1 paper

NM_002335.4

p.L145delFs

c.434delT

1 paper

NM_002335.4

p.L145fs

c.433_434fs

1 paper

NM_002335.4

p.L145L

c.435C>T

1 paper

NM_002335.4

p.G139R

c.415G>C

2 papers

NM_002335.4

p.N138S

c.413A>G

1 paper

NM_002335.4

p.W147*

c.440G>A

1 paper

NM_002335.4

p.L137P

c.410T>C

1 paper

NM_002335.4

p.W147*

c.441G>A

1 paper

NM_002335.4

p.N136K

c.408C>A