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.R40_G49del10

c.118_146del30

Surrounding Variants

1 paper

NM_002335.4

p.R40C

c.118C>T

3 papers

NM_002335.4

p.R40H

c.119G>A

4 papers

NM_002335.4

p.R41W

c.121C>T

1 paper

NM_002335.4

p.L36P

c.107T>C

1 paper

NM_002335.4

p.L36R

c.107T>G

1 paper

NM_002335.4

p.D42E

c.126C>G

1 paper

NM_002335.4

p.V43V

c.129A>T

1 paper

NM_002335.4

p.R44Q

c.131G>A

1 paper

NM_002335.4

p.R44L

c.131G>T

1 paper

NM_002335.4

p.L34F

c.100C>T

1 paper

NM_002335.4

p.R44R

c.132G>C

1 paper

NM_002335.4

p.P33Q

c.98C>A