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.V58V

c.174G>C

Surrounding Variants

1 paper

NM_002335.4

p.V59I

c.175G>A

1 paper

NM_002335.4

p.V59_S60insAA

c.175_179ins6

1 paper

NM_002335.4

p.V58E

c.173T>A

1 paper

NM_002335.4

p.V58M

c.172G>A

1 paper

NM_002335.4

p.I57_V58delFs

c.171_172delCG

2 papers

NM_002335.4

p.V58_S60del3

c.172_179del9

1 paper

NM_002335.4

p.I57insFs

c.170dupT

1 paper

NM_002335.4

p.S55T

c.163T>A

2 papers

NM_002335.4

p.E54D

c.162G>C

1 paper

NM_002335.4

p.E54D

c.162G>T

1 paper

NM_002335.4

p.S55_S60del6

c.163_179del18

1 paper

NM_002335.4

p.E54A

c.161A>C