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.T95M

c.284C>T

Surrounding Variants

1 paper

NM_002335.4

p.T95T

c.285G>A

1 paper

NM_002335.4

p.G96_N101del0

c.287_301del15

1 paper

NM_002335.4

p.Q94K

c.280C>A

6 papers

NM_002335.4

p.A97V

c.290C>T

1 paper

NM_002335.4

p.A98_G106del9

c.292_317del27

2 papers

NM_002335.4

p.A97A

c.291C>T

2 papers

NM_002335.4

p.A98T

c.292G>A

1 paper

NM_002335.4

p.L92L

c.276G>T

1 paper

NM_002335.4

p.V99_Q100del0

c.295_300del6

1 paper

NM_002335.4

p.V99M

c.295G>A

1 paper

NM_002335.4

p.V99L

c.295G>C

1 paper

NM_002335.4

p.V99L

c.295G>T