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.I156F

c.466A>T

Surrounding Variants

13 papers

NM_002335.4

p.R154M

c.461G>T

1 paper

NM_002335.4

p.P153P

c.459G>A

1 paper

NM_002335.4

p.D159D

c.477C>T

1 paper

NM_002335.4

p.P160L

c.479C>T

1 paper

NM_002335.4

p.D151A

c.452A>C

2 papers

NM_002335.4

p.H162Y

c.484C>T

1 paper

NM_002335.4

p.H162_G163delFs

c.485_488del4

1 paper

NM_002335.4

p.H162P

c.485A>C

1 paper

NM_002335.4

p.G163R

c.487G>A

1 paper

NM_002335.4

p.G163R

c.487G>C

1 paper

NM_002335.4

p.Q148L

c.443A>T

1 paper

NM_002335.4

p.Q148*

c.442C>T