The LRP1 gene homepage

General information
Gene symbol LRP1
Gene name low density lipoprotein receptor-related protein 1
Chromosome 12
Chromosomal band q13-q14
Imprinted Unknown
Genomic reference NG_016444.1
Transcript reference NM_002332.2
Exon/intron information NM_002332.2 exon/intron table
Associated with diseases KPA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Ivo Horn
Total number of public variants reported 52
Unique public DNA variants reported 52
Individuals with public variants 18
Hidden variants 20
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created September 13, 2012
Date last updated May 09, 2022
Version LRP1:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002332.2.
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
Homepage URL https://www.LOVD.nl/LRP1
HGNC 6692
Entrez Gene 4035
PubMed articles LRP1
OMIM - Gene 107770
OMIM - Diseases KPA (keratosis pilaris atrophicans (KPA))
HGMD LRP1
GeneCards LRP1
GeneTests LRP1
Orphanet LRP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001358 12 low density lipoprotein receptor-related protein 1 NM_002332.2 NP_002323.2 52


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