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.I274S

c.821T>G

Surrounding Variants

1 paper

NM_002335.4

p.L275R

c.824T>G

1 paper

NM_002335.4

p.S276N

c.827G>A

1 paper

NM_002335.4

p.A277del1

c.829_831delGCC

1 paper

NM_002335.4

p.A277_D283insFs

c.831_849dup19

1 paper

NM_002335.4

p.A277V

c.830C>T

1 paper

NM_002335.4

p.L278_P281delFs

c.833_842del10

1 paper

NM_002335.4

p.K270R

c.809A>G

1 paper

NM_002335.4

p.G269fs

c.805_806fs

2 papers

NM_002335.4

p.G268E

c.803G>A

1 paper

NM_002335.4

p.P281delFs

c.842delC

1 paper

NM_002335.4

p.G268fs

c.802_803fs

5 papers

NM_002335.4

p.G268_R271delFs

c.803_812del10