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.G626S

c.1876G>A

Surrounding Variants

2 papers

NM_002335.4

p.G626R

c.1876G>C

2 papers

NM_002335.4

p.C627R

c.1879T>C

1 paper

NM_002335.4

p.C625R

c.1873T>C

1 paper

NM_002335.4

p.P628_I629insA

c.1882_1886ins3

6 papers

NM_002335.4

p.R624W

c.1870C>T

1 paper

NM_002335.4

p.T623I

c.1868C>T

1 paper

NM_002335.4

p.G630S

c.1888G>A

1 paper

NM_002335.4

p.A622P

c.1864G>C

1 paper

NM_002335.4

p.L631_E632ins2

c.1893_1894ins6

1 paper

NM_002335.4

p.H621_T623del3

c.1861_1868del9

1 paper

NM_002335.4

p.L634M

c.1900C>A

7 papers

NM_002335.4

p.F617C

c.1850T>G