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

3 papers

NM_002335.4

p.Q584*

c.1750C>T

Surrounding Variants

1 paper

NM_002335.4

p.I582V

c.1744A>G

3 papers

NM_002335.4

p.D587N

c.1759G>A

4 papers

NM_002335.4

p.V580I

c.1738G>A

1 paper

NM_002335.4

p.D579_D583Fs

c.1737_1747delinsAACAGGAFs

1 paper

NM_002335.4

p.M589delFs

c.1765delA

4 papers

NM_002335.4

p.R578Q

c.1733G>A

3 papers

NM_002335.4

p.R578W

c.1732C>T

1 paper

NM_002335.4

p.S577insFs

c.1730dupG

1 paper

NM_002335.4

p.L591P

c.1772T>C

1 paper

NM_002335.4

p.K575N

c.1725G>C

1 paper

NM_002335.4

p.A593G

c.1778C>G

1 paper

NM_002335.4

p.H572Y

c.1714C>T