The LRP2 gene homepage

General information
Gene symbol LRP2
Gene name low density lipoprotein receptor-related protein 2
Chromosome 2
Chromosomal band q31.1
Imprinted Unknown
Genomic reference NG_012634.1
Transcript reference NM_004525.2, XM_005246551.1, XM_005246552.1
Associated with diseases ID, Donnai-Barrow syndrome
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 712
Unique public DNA variants reported 83
Individuals with public variants 35
Hidden variants 167
Date created October 29, 2013
Date last updated September 28, 2016
Version LRP2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:6694
Entrez Gene 4036
PubMed articles LRP2
OMIM - Gene 600073
OMIM - Diseases Donnai-Barrow syndrome
HGMD LRP2
GeneCards LRP2
GeneTests LRP2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004398 2 low density lipoprotein receptor-related protein 2 NM_004525.2 NP_004516.2 712
00041178 2 transcript variant X1 XM_005246551.1 XP_005246608.1 -
00041179 2 transcript variant X2 XM_005246552.1 XP_005246609.1 -


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