BRIP1 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

BRIP1 (BRCA1 interacting protein C-terminal helicase 1)

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

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BRIP1 gene homepage

General information
Gene symbol	BRIP1
Gene name	BRCA1 interacting protein C-terminal helicase 1
Chromosome	17
Chromosomal band	q23.2
Imprinted	Unknown
Genomic reference	LRG_300
Transcript reference	NM_032043.2
Associated with diseases	BrCa, FANCJ
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	215
Unique public DNA variants reported	88
Individuals with public variants	229
Hidden variants	0
Date created	May 20, 2020
Date last updated	November 04, 2020
Version	BRIP1:201104

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	20473
Entrez Gene	83990
PubMed articles	BRIP1
OMIM - Gene	605882
OMIM - Diseases	BrCa (Breast Cancer) FANCJ (Fanconi anemia, complementation group J)

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000018	17	BRCA1 interacting protein C-terminal helicase 1	NM_032043.2	NP_114432.2	215

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