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.G555insFs

c.1663_1664insT

Surrounding Variants

1 paper

NM_002335.4

p.L554L

c.1660C>T

2 papers

NM_002335.4

p.D556H

c.1666G>C

1 paper

NM_002335.4

p.F557delFs

c.1670delT

1 paper

NM_002335.4

p.F557L

c.1669T>C

1 paper

NM_002335.4

p.F557L

c.1671C>A

1 paper

NM_002335.4

p.F557L

c.1671C>G

7 papers

NM_002335.4

p.T552M

c.1655C>T

1 paper

NM_002335.4

p.Y559C

c.1676A>G

2 papers

NM_002335.4

p.Y559*

c.1677C>A

6 papers

NM_002335.4

p.G550R

c.1648G>A

6 papers

NM_002335.4

p.G550R

c.1648G>C

6 papers

NM_002335.4

p.F549F

c.1647T>C