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

8 papers

NM_002335.4

p.T1268delFs

c.3804delA

Surrounding Variants

1 paper

NM_002335.4

p.T1268fs

c.3802_3803fs

1 paper

NM_002335.4

p.G1269E

c.3806G>A

6 papers

NM_002335.4

p.E1270fs

c.3808_3809fs

1 paper

NM_002335.4

p.E1270fs

c.3808_3809fs

1 paper

NM_002335.4

p.D1262H

c.3784G>C

2 papers

NM_002335.4

p.P1261R

c.3782C>G

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

1 paper

NM_002335.4

p.S1260F

c.3779C>T

1 paper

NM_002335.4

p.A1277S

c.3829G>T

1 paper

NM_002335.4

p.W1278*

c.3833G>A

1 paper

NM_002335.4

p.W1278*

c.3834G>A