PRF1 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

PRF1 (perforin 1)

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

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PRF1 gene homepage

General information
Gene symbol	PRF1
Gene name	perforin 1
Chromosome	10
Chromosomal band	q22.1
Imprinted	Unknown
Genomic reference	LRG_94
Transcript reference	NM_001083116.1, NM_005041.4
Associated with diseases	AplAn, FHL2, NHL
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	247
Unique public DNA variants reported	44
Individuals with public variants	271
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 16, 2022
Version	PRF1:220516

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	9360
Entrez Gene	5551
PubMed articles	PRF1
OMIM - Gene	170280
OMIM - Diseases	AplAn (Aplastic anemia) FHL2 (Hemophagocytic lymphohistiocytosis, familial, 2) NHL (Lymphoma, non-Hodgkin)

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
00000163	10	perforin 1 (pore forming protein), transcript variant 2	NM_001083116.1	NP_001076585.1	247
00000164	10	perforin 1 (pore forming protein), transcript variant 1	NM_005041.4	NP_005032.2	247

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