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.G1308S

c.3922G>A

Surrounding Variants

2 papers

NM_002335.4

p.R1307W

c.3919C>T

2 papers

NM_002335.4

p.A1306A

c.3918G>A

2 papers

NM_002335.4

p.A1306V

c.3917C>T

2 papers

NM_002335.4

p.A1306T

c.3916G>A

3 papers

NM_002335.4

p.C1305R

c.3913T>C

3 papers

NM_002335.4

p.A1301T

c.3901G>A

1 paper

NM_002335.4

p.R1316H

c.3947G>A

1 paper

NM_002335.4

p.C1298R

c.3892T>C

1 paper

NM_002335.4

p.D1318D

c.3954C>T

1 paper

NM_002335.4

p.E1320A

c.3959A>C

2 papers

NM_002335.4

p.C1295R

c.3883T>C

1 paper

NM_002335.4

p.E1293K

c.3877G>A