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.P1284_E1285delins

c.3852_3853delinsGA

Surrounding Variants

1 paper

NM_002335.4

p.C1286Y

c.3857G>A

3 papers

NM_002335.4

p.G1282_E1285del4

c.3844_3854del12

2 papers

NM_002335.4

p.D1288G

c.3863A>G

1 paper

NM_002335.4

p.R1279H

c.3836G>A

1 paper

NM_002335.4

p.R1279C

c.3835C>T

1 paper

NM_002335.4

p.W1278*

c.3834G>A

1 paper

NM_002335.4

p.W1278*

c.3833G>A

1 paper

NM_002335.4

p.A1277S

c.3829G>T

1 paper

NM_002335.4

p.E1293K

c.3877G>A

2 papers

NM_001291902.2

p.G695R

c.2083G>A

NM_002335.4

p.G1276R

c.3826G>A

2 papers

NM_001291902.2

p.G695R

c.2083G>C

NM_002335.4

p.G1276R

c.3826G>C

2 papers

NM_002335.4

p.C1295R

c.3883T>C