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 176
Unique public DNA variants reported 41
Individuals with public variants 185
Hidden variants 0
Date created May 20, 2020
Date last updated May 20, 2020
Version PRF1:200520

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




NCBI ID     

NCBI Protein ID     

00000163 10 perforin 1 (pore forming protein), transcript variant 2 NM_001083116.1 NP_001076585.1 176
00000164 10 perforin 1 (pore forming protein), transcript variant 1 NM_005041.4 NP_005032.2 176

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