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.K697_T698Splc

c.2091+2T>C

Surrounding Variants

1 paper

NM_002335.4

p.K697R

c.2090A>G

1 paper

NM_002335.4

p.S695S

c.2085C>T

1 paper

NM_002335.4

p.V694F

c.2080G>T

1 paper

NM_002335.4

p.W691C

c.2073G>C

1 paper

NM_002335.4

p.W691C

c.2073G>T

1 paper

NM_002335.4

p.W691L

c.2072G>T

1 paper

NM_002335.4

p.V684A

c.2051T>C

1 paper

NM_002335.4

p.V684fs

c.2050_2051fs

1 paper

NM_002335.4

p.V684insFs

c.2050_2051ins4

16 papers

NM_002335.4

p.D683N

c.2047G>A

1 paper

NM_002335.4

p.A677V

c.2030C>T

1 paper

NM_002335.4

p.G673G

c.2019C>T