LOVD MAP2K1 homepage

General information
Gene name mitogen-activated protein kinase kinase 1
Gene symbol MAP2K1
Chromosome Location 15q22.1-q22.33
Database location lovd.bx.psu.edu
Curator Belinda Giardine and Joseph Borg
PubMed references View all (unique) PubMed references in the MAP2K1 database
Date of creation February 18, 2009
Last update September 28, 2010
Version MAP2K1 100928
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Genomic refseq ID NG_008305.1
Transcript refseq ID NM_002755.3
Total number of unique DNA variants reported 1
Total number of individuals with variant(s) 1
Total number of variants reported 1
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the MAP2K1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
PSU Genome Browser Show variants in the PSU Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the MAP2K1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the MAP2K1 database
Variants with no known pathogenicity Listing of all MAP2K1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the MAP2K1 database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
Entrez Gene 5604
OMIM - Gene 176872
External link HbVar

Copyright & disclaimer
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