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.S73insFs

c.218_219ins7

Surrounding Variants

1 paper

NM_002335.4

p.S73insFs

c.218_219ins7

1 paper

NM_002335.4

p.S73C

c.218C>G

1 paper

NM_002335.4

p.S73T

c.217T>A

1 paper

NM_002335.4

p.K74E

c.220A>G

1 paper

NM_002335.4

p.S73_Y78del0

c.217_234del18

1 paper

NM_002335.4

p.Q71fs

c.211_212fs

1 paper

NM_002335.4

p.Q71delFs

c.211_212delCA

1 paper

NM_002335.4

p.F70_E85del16

c.208_254del48

1 paper

NM_002335.4

p.D69Y

c.205G>T

1 paper

NM_002335.4

p.V68delFs

c.204delG

1 paper

NM_002335.4

p.W79delFs

c.235delT

3 papers

NM_002335.4

p.W79R

c.235T>A