FANCD2 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

FANCD2 (FA complementation group D2)

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

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FANCD2 gene homepage

General information
Gene symbol	FANCD2
Gene name	FA complementation group D2
Chromosome	3
Chromosomal band	p25.3
Imprinted	Unknown
Genomic reference	LRG_306
Transcript reference	NM_001018115.1, NM_033084.3
Associated with diseases	FANCD2
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	1004
Unique public DNA variants reported	166
Individuals with public variants	579
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 16, 2022
Version	FANCD2:220516

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	3585
Entrez Gene	2177
PubMed articles	FANCD2
OMIM - Gene	613984
OMIM - Diseases	FANCD2 (Fanconi anemia, complementation group D2)

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
00000076	3	Fanconi anemia, complementation group D2, transcript variant 2	NM_001018115.1	NP_001018125.1	1004
00000077	3	Fanconi anemia, complementation group D2, transcript variant 1	NM_033084.3	NP_149075.2	1004

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