The NUP214 gene homepage

General information
Gene symbol NUP214
Gene name nucleoporin 214kDa
Chromosome 9
Chromosomal band q34
Imprinted Unknown
Genomic reference NG_023371.1
Transcript reference NM_005085.2, XM_005272216.1, XM_005272217.1, XM_005272218.1, XM_005272219.1
Associated with diseases ALL, AML
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 213
Unique public DNA variants reported 23
Individuals with public variants 35
Hidden variants 76
Date created November 30, -0001
Date last updated September 28, 2016
Version NUP214:160928

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:8064
Entrez Gene 8021
PubMed articles NUP214
OMIM - Gene 114350
OMIM - Diseases ALL (leukemia, lymphoid, acute (ALL))
AML (leukemia, myeloid, acute (AML))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018469 9 Manually created transcript. (expired, new version available) NM_005085.2 - 213
00048155 9 transcript variant X3 XM_005272218.1 XP_005272275.1 -
00048156 9 transcript variant X4 XM_005272219.1 XP_005272276.1 -
00048157 9 transcript variant X2 XM_005272217.1 XP_005272274.1 -
00048158 9 transcript variant X1 XM_005272216.1 XP_005272273.1 -