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.I87S

c.260T>G

Surrounding Variants

1 paper

NM_002335.4

p.I87V

c.259A>G

2 papers

NM_002335.4

p.K88R

c.263A>G

2 papers

NM_002335.4

p.A86T

c.256G>A

72 papers

NM_002335.4

p.Q89R

c.266A>G

1 paper

NM_002335.4

p.E85K

c.253G>A

1 paper

NM_002335.4

p.S83G

c.247A>G

1 paper

NM_002335.4

p.V82G

c.245T>G

1 paper

NM_002335.4

p.L92L

c.276G>T

37 papers

NM_002335.4

p.D81V

c.242A>T

1 paper

NM_002335.4

p.T80T

c.240A>T

1 paper

NM_002335.4

p.Q94K

c.280C>A

1 paper

NM_002335.4

p.T95M

c.284C>T