The RECQL4 gene homepage

General information
Gene symbol RECQL4
Gene name RecQ protein-like 4
Chromosome 8
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_016430.1
Transcript reference NM_004260.3
Exon/intron information NM_004260.3 exon/intron table
Associated with diseases BGS, RAPADILINO, RTS2
Citation reference(s) PubMed: Siitonen 2003, PubMed: Croteau 2012
Refseq URL Genomic reference sequence
Curators (1) Annika Siitonen
Total number of public variants reported 391
Unique public DNA variants reported 278
Individuals with public variants 100
Hidden variants 29
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created April 29, 2010
Date last updated November 01, 2022
Version RECQL4:221101

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_004260.3.
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
HGNC 9949
Entrez Gene 9401
PubMed articles RECQL4
OMIM - Gene 603780
OMIM - Diseases BGS (Baller-Gerold syndrome (BGS))
RTS2 (Rothmund-Thomson syndrome, type 2,)
GeneCards RECQL4
GeneTests RECQL4
Orphanet RECQL4

Active transcripts




NCBI ID     

NCBI Protein ID     

00001769 8 RecQ protein-like 4 NM_004260.3 NP_004251.3 391

Copyright & disclaimer
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