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

33 papers

NM_002335.4

p.R1036Q

c.3107G>A

Surrounding Variants

1 paper

NM_002335.4

p.W1040R

c.3118T>A

1 paper

NM_002335.4

p.W1040R

c.3118T>C

1 paper

NM_002335.4

p.D1032N

c.3094G>A

2 papers

NM_002335.4

p.T1041M

c.3122C>T

1 paper

NM_002335.4

p.I1031delFs

c.3092delT

1 paper

NM_002335.4

p.E1043*

c.3127G>T

1 paper

NM_002335.4

p.L1029Fs

c.3085_3086delinsAGGCAGCATCGACAAAACCCAGACAGGFs

1 paper

NM_002335.4

p.L1029fs

c.3085_3086fs

1 paper

NM_001291902.2

p.N440Y

c.1318A>T

1 paper

NM_002335.4

p.R1052R

c.3156G>A

1 paper

NM_002335.4

p.G1055R

c.3163G>A

1 paper

NM_002335.4

p.G1055R

c.3163G>C