LOVD KLF1 homepage

General information
Gene name Kruppel like factor 1
Gene symbol KLF1
Chromosome Location 19p13.13
Database location MingQi_Lab
Curator Peikuan Cong and Xiangmin Xu
PubMed references View all (unique) PubMed references in the KLF1 database
Date of creation February 02, 2018
Last update March 11, 2018
Version KLF1 180311
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_013087.1
Transcript refseq ID NM_006563.4
Total number of unique DNA variants reported 18
Total number of individuals with variant(s) 18
Total number of variants reported 18
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NOTE This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]

Graphical displays and utilities
Summary tables Summary of all sequence variants in the KLF1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC 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 KLF1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the KLF1 database
Variants with no known pathogenicity Listing of all KLF1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 6345
Entrez Gene 10661
OMIM - Gene 600599
UniProtKB (SwissProt/TrEMBL) Q13351
HGMD KLF1
GeneCards KLF1
GeneTests KLF1

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2018. 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.

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