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EZH2 (view source)

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==Common Alteration Types==

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Mutations in ''EZH2'' are overwhelmingly Tyr646 (NM_004456.4) (sometimes reported in the literature as Tyr641) missense gain-of-function mutations. Lys634, Val637, Ala677, Val679, Ala682, Ala687 and Ala692 (all NM_004456.4) have also been reported as sites of missense gain-of-function mutations. The COSMIC database of somatic variants indicates Arg690 and Asp185 (NM_004456.4) mutations are also somewhat common (COSMIC). No clear pattern of other mutations is evident.

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Paul.Defazio

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