The KRIT1 gene homepage


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
General information
Gene symbol KRIT1
Gene name KRIT1, ankyrin repeat containing
Chromosome 7
Chromosomal band q21.2
Imprinted Unknown
Genomic reference NG_012964.1
Transcript reference NM_004912.3, NM_194456.1
Exon/intron information NM_004912.3 exon/intron table
Associated with diseases CCM1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Antonella Mendola
Total number of public variants reported 151
Unique public DNA variants reported 112
Individuals with public variants 71
Hidden variants 2
Download all this gene's data Download all data
Notes Alias CCM1.
This database is one of the "Vascular anomalies and lymphedema" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 09, 2010
Date last updated April 28, 2021
Version KRIT1:210428

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_004912.3.
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/KRIT1
HGNC 1573
Entrez Gene 889
PubMed articles KRIT1
OMIM - Gene 604214
OMIM - Diseases CCM1 (cerebral cavernous malformations, type 1 (CCM1))
HGMD KRIT1
GeneCards KRIT1
GeneTests KRIT1
Orphanet KRIT1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023953 7 transcript variant 2 NM_004912.3 NP_004903.2 127
00025296 7 transcript variant 1 NM_194456.1 NP_919438.1 108


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 © 2010-2021. 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.