RECQL4 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

RECQL4 (RecQ like helicase 4)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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RECQL4 gene homepage

General information
Gene symbol	RECQL4
Gene name	RecQ like helicase 4
Chromosome	8
Chromosomal band	q24.3
Imprinted	Unknown
Genomic reference	NG_016430.1
Transcript reference	NM_004260.3
Associated with diseases	BGS, RPDLN, RTS
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	820
Unique public DNA variants reported	240
Individuals with public variants	795
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 16, 2022
Version	RECQL4:220516

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
HGNC	9949
Entrez Gene	9401
PubMed articles	RECQL4
OMIM - Gene	603780
OMIM - Diseases	BGS (Baller-Gerold syndrome) RPDLN (RAPADILINO syndrome) RTS (Rothmund-Thomson syndrome)

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000184	8	RecQ protein-like 4	NM_004260.3	NP_004251.3	820

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