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

1–12 of 1230 variants

153 papers

NM_002335.4

p.A1330V

c.3989C>T

145 papers

NM_002335.4

p.G171V

c.512G>T

85 papers

NM_002335.4

p.V667M

c.1999G>A

72 papers

NM_002335.4

p.Q89R

c.266A>G

48 papers

NM_002335.4

p.A214V

c.641C>T

42 papers

NM_002335.4

p.A242T

c.724G>A

42 papers

NM_002335.4

p.T253I

c.758C>T

37 papers

NM_002335.4

p.D81V

c.242A>T

37 papers

NM_002335.4

p.A214T

c.640G>A

33 papers

NM_002335.4

p.R1036Q

c.3107G>A

32 papers

NM_002335.4

p.G171R

c.511G>C

31 papers

NM_002335.4

p.R570W

c.1708C>T