ERCC5 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

ERCC5 (ERCC excision repair 5, endonuclease)

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

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ERCC5 gene homepage

General information
Gene symbol	ERCC5
Gene name	ERCC excision repair 5, endonuclease
Chromosome	13
Chromosomal band	q33.1
Imprinted	Unknown
Genomic reference	LRG_464
Transcript reference	NM_000123.3
Associated with diseases	COFS3, XPG
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	422
Unique public DNA variants reported	103
Individuals with public variants	377
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 16, 2022
Version	ERCC5:220516

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	3437
Entrez Gene	2073
PubMed articles	ERCC5
OMIM - Gene	133530
OMIM - Diseases	COFS3 (Cerebrooculofacioskeletal syndrome 3) XPG (Xeroderma pigmentosum, group G)

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
00000059	13	excision repair cross-complementing rodent repair deficiency, complementation group 5	NM_000123.3	NP_000114.2	422

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