PRF1 Chromosome 10

Perforin 1
171 variants 171 Health Risk

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What This Gene Does
This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
C2 domain containing
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000180644
Associated Conditions (17)
Familial hemophagocytic lymphohistiocytosis 2
PRF1-related disorder
Autoinflammatory syndrome
Aplastic anemia
Lymphoma
non-Hodgkin
familial
Inborn genetic diseases
Clear cell carcinoma of kidney
Familial cancer of breast
Gastric cancer
Familial hemophagocytic lymphohistiocytosis
Pelizaeus-Merzbacher disease
Hemophagocytic lymphohistiocytosis
2
susceptibility to
Familial hemophagocytic lymphohistiocytosis type 1
Key Variants
RS112883709
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder, Familial hemophagocytic lymphohistiocytosis 2
Health Risk
RS1208723557
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
Health Risk
RS12161733
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Lymphoma, non-Hodgkin
Health Risk
RS138126912
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Autoinflammatory syndrome
Health Risk
RS139336186
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, PRF1-related disorder
Health Risk
RS140787739
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Lymphoma
Health Risk
RS141660796
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Lymphoma
Health Risk
RS142012387
Conflicting classifications of pathogenicity
Health Risk
RS144004164
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
Health Risk
RS144024245
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2
Health Risk
RS144926997
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder, Familial hemophagocytic lymphohistiocytosis 2
Health Risk
RS145463632
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Lymphoma
Health Risk
All Variants (171)
RSID Category Clinical Significance Conditions
RS112883709 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder, Familial hemophagocytic lymphohistiocytosis 2
RS1208723557 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS12161733 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Lymphoma, non-Hodgkin
RS138126912 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Autoinflammatory syndrome
RS139336186 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, PRF1-related disorder
RS140787739 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Lymphoma
RS141660796 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Lymphoma
RS142012387 Health Risk Conflicting classifications of pathogenicity —
RS144004164 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS144024245 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2
RS144926997 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder, Familial hemophagocytic lymphohistiocytosis 2
RS145463632 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Lymphoma
RS146414576 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS147051158 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 2
RS147453010 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS148237800 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Aplastic anemia
RS149008090 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2
RS149776121 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Clear cell carcinoma of kidney
RS1564723449 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis, Aplastic anemia
RS181323749 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2
RS1848214400 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS200167080 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS200312496 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2
RS200383720 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 2
RS200534908 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Lymphoma, non-Hodgkin
RS200824018 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Aplastic anemia
RS201032696 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Pelizaeus-Merzbacher disease, Familial hemophagocytic lymphohistiocytosis 2
RS201584464 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS201909472 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS202091142 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2132478434 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2
RS2493483298 Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS28933374 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 2
RS28933376 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Aplastic anemia
RS368524364 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Lymphoma
RS535296791 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS547321451 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, PRF1-related disorder
RS551046401 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Inborn genetic diseases
RS564234285 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2
RS747380397 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Aplastic anemia
RS759983785 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS761293997 Health Risk Conflicting classifications of pathogenicity Lymphoma, non-Hodgkin, familial
RS764596094 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS765636779 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 2
RS767273601 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS771076819 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS776657932 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder, Aplastic anemia
RS777662073 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 2
RS779399414 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS781717112 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 2
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