The MAD2L2 gene homepage

A Fanconi anemia mutation database.
General information
Gene symbol MAD2L2
Gene name MAD2 mitotic arrest deficient-like 2 (yeast)
Chromosome 1
Chromosomal band p36
Imprinted Unknown
Genomic reference NG_052907.1
Transcript reference NM_006341.3
Exon/intron information NM_006341.3 exon/intron table
Associated with diseases FANCV
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 3
Unique public DNA variants reported 3
Individuals with public variants 2
Hidden variants 1
Download all this gene's data Download all data
Notes Alias REV7, FANCV.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
We gratefully acknowledge the efforts of Arleen Auerbach curating the variant linked to Fanconi Anemia (until end 2019).
Date created May 03, 2013
Date last updated May 09, 2022
Version MAD2L2:220509

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_006341.3.
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/MAD2L2
External URL Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 6764
Entrez Gene 10459
PubMed articles MAD2L2
OMIM - Gene 604094
OMIM - Diseases FANCV (Fanconi anemia, complementation group V (FANCV))
HGMD MAD2L2
GeneCards MAD2L2
GeneTests MAD2L2
Orphanet MAD2L2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011640 1 transcript variant 2 NM_006341.3 NP_006332.3 3


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2022. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.