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

2 papers

NM_002335.4

p.R657G

c.1969A>G

Surrounding Variants

1 paper

NM_002335.4

p.H656fs

c.1966_1967fs

1 paper

NM_002335.4

p.I655delFs

c.1965delC

1 paper

NM_002335.4

p.L660_E661insCA

c.1978_1982ins6

1 paper

NM_002335.4

p.A654T

c.1960G>A

2 papers

NM_002335.4

p.T662I

c.1985C>T

1 paper

NM_002335.4

p.N663K

c.1989T>G

1 paper

NM_002335.4

p.T650P

c.1948A>C

1 paper

NM_002335.4

p.N664N

c.1992C>T

1 paper

NM_002335.4

p.N665S

c.1994A>G

1 paper

NM_002335.4

p.N665K

c.1995C>A

9 papers

NM_002335.4

p.D666N

c.1996G>A

5 papers

NM_002335.4

p.V648I

c.1942G>A