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.T249delFs

c.746_747delCT

Surrounding Variants

1 paper

NM_002335.4

p.D248_T249del0

c.742_747del6

1 paper

NM_002335.4

p.G247W

c.739G>T

1 paper

NM_002335.4

p.S246S

c.738C>T

1 paper

NM_002335.4

p.L245P

c.734T>C

42 papers

NM_002335.4

p.T253I

c.758C>T

1 paper

NM_002335.4

p.T253_D254ins1

c.759_760insAAT

3 papers

NM_002335.4

p.T244R

c.731C>G

11 papers

NM_002335.4

p.T244M

c.731C>T

1 paper

NM_002335.4

p.T244S

c.730A>T

1 paper

NM_002335.4

p.D254E

c.762C>G

3 papers

NM_002335.4

p.W255*

c.764G>A

3 papers

NM_002335.4

p.W255*

c.765G>A