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.T650P

c.1948A>C

Surrounding Variants

5 papers

NM_002335.4

p.V648I

c.1942G>A

1 paper

NM_002335.4

p.L647F

c.1941G>C

1 paper

NM_002335.4

p.L647F

c.1941G>T

1 paper

NM_002335.4

p.A654T

c.1960G>A

8 papers

NM_002335.4

p.E644E

c.1932G>A

1 paper

NM_002335.4

p.I655delFs

c.1965delC

1 paper

NM_002335.4

p.H656fs

c.1966_1967fs

2 papers

NM_002335.4

p.R657G

c.1969A>G

1 paper

NM_002335.4

p.C640S

c.1919G>C

1 paper

NM_002335.4

p.L660_E661insCA

c.1978_1982ins6

1 paper

NM_002335.4

p.C640S

c.1918T>A

1 paper

NM_002335.4

p.T639insFs

c.1915dupA