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POT1 - protection of telomeres 1

Synonym(s) : DKFZp586D211, hPot1
Previous symbols and names : Protection of telomeres 1 homolog (S. pombe)
Type : gene with protein product
Chromosomal location : 7q31.33
OMIM: 606478
HGNC: 17284
UniProtKB: Q9NUX5
Genatlas: POT1
Ensembl: ENSG00000128513
IUPHAR-DB: -
Reactome: Q9NUX5
LOVD: POT1

Diseases list

Disease-causing somatic mutation(s) in B-cell chronic lymphocytic leukemia
Major susceptibility factor in Anaplastic oligodendroglioma
Major susceptibility factor in Familial melanoma
Major susceptibility factor in Oligodendroglioma

: Assessed

Additional information

Health care resources for this gene

Diagnostic tests (2)

Research activities on this gene

Specialised Social Services

Eurordis directory

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