ERCC2 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

ERCC2 (ERCC excision repair 2, TFIIH core complex h...)

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

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ERCC2 gene homepage

General information
Gene symbol	ERCC2
Gene name	ERCC excision repair 2, TFIIH core complex helicase subunit
Chromosome	19
Chromosomal band	q13.32
Imprinted	Unknown
Genomic reference	LRG_461
Transcript reference	NM_000400.3, NM_001130867.1
Associated with diseases	COFS2, XPD
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	224
Unique public DNA variants reported	132
Individuals with public variants	242
Hidden variants	0
Date created	May 20, 2020
Date last updated	September 17, 2020
Version	ERCC2:200917

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	3434
Entrez Gene	2068
PubMed articles	ERCC2
OMIM - Gene	126340
OMIM - Diseases	COFS2 (Cerebrooculofacioskeletal syndrome 2) XPD (Xeroderma pigmentosum, group D)

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
00000055	19	excision repair cross-complementing rodent repair deficiency, complementation group 2, transcript variant 1	NM_000400.3	NP_000391.1	224
00000056	19	excision repair cross-complementing rodent repair deficiency, complementation group 2, transcript variant 2	NM_001130867.1	NP_001124339.1	126

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