Gene Detail

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Gene Symbol GATA2
Synonyms DCML | IMD21 | MONOMAC | NFE1B
Gene Description GATA2, GATA binding protein 2, is a zinc-finger transcription factor that plays a central role in regulating the proliferation and survival of hematopoietic stem cells (PMID: 22192845). Mutations in GATA2 are associated with myelodysplastic syndrome and leukemia (PMID: 22192845) and decreased expression has been associated with melanoma progression (PMID: 29156497).

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Molecular Profile Protein Effect Treatment Approaches
GATA2 A109V unknown
GATA2 A163T unknown
GATA2 A164T loss of function
GATA2 A198T unknown
GATA2 A198V unknown
GATA2 A203T unknown
GATA2 A302S unknown
GATA2 A318T loss of function
GATA2 A341V unknown
GATA2 A364T unknown
GATA2 A372T unknown
GATA2 A37V unknown
GATA2 A411V unknown
GATA2 A430E unknown
GATA2 A478S unknown
GATA2 A478T unknown
GATA2 C295A loss of function - predicted
GATA2 C349A loss of function
GATA2 C373R loss of function
GATA2 E423del unknown
GATA2 F428Sfs*49 unknown
GATA2 G150Efs*68 loss of function - predicted
GATA2 G167D unknown
GATA2 G167S unknown
GATA2 G200fs loss of function - predicted
GATA2 G200Vfs*18 loss of function - predicted
GATA2 G210S unknown
GATA2 G237D unknown
GATA2 G263E unknown
GATA2 G263R unknown
GATA2 G272E unknown
GATA2 G272K unknown
GATA2 G273R unknown
GATA2 G366R unknown
GATA2 G450R unknown
GATA2 G468S unknown
GATA2 H25Pfs*159 loss of function - predicted
GATA2 H460P unknown
GATA2 H471fs unknown
GATA2 H471Tfs*6 unknown
GATA2 H51Y unknown
GATA2 L229R unknown
GATA2 L321P loss of function
GATA2 L359V unknown
GATA2 M221L unknown
GATA2 M388T unknown
GATA2 M400L unknown
GATA2 mutant unknown
CEBPA mut GATA2 mut
GATA2 N351Kfs*33 unknown
GATA2 N371K unknown
GATA2 N50S unknown
GATA2 P161A loss of function - predicted
GATA2 P175L unknown
GATA2 P228L unknown
GATA2 P240S unknown
GATA2 P247A unknown
GATA2 P267H unknown
GATA2 P267L unknown
GATA2 P304H loss of function
GATA2 P385L unknown
GATA2 P461L unknown
GATA2 P87R unknown
GATA2 Q328* unknown
GATA2 Q328K unknown
GATA2 R230C unknown
GATA2 R283C unknown
GATA2 R307W loss of function
GATA2 R330* loss of function
GATA2 R361L loss of function
GATA2 R362Q unknown
GATA2 R396Q loss of function
GATA2 R398Q unknown
GATA2 R398W unknown
GATA2 R86Afs*33 loss of function - predicted
GATA2 S139Cfs*45 loss of function - predicted
GATA2 S251F unknown
GATA2 S261N unknown
GATA2 S277G unknown
GATA2 S462F unknown
GATA2 S464R unknown
GATA2 S466F unknown
GATA2 S54W unknown
GATA2 S92R unknown
GATA2 T238I unknown
GATA2 T354M loss of function
CEBPA mut GATA2 T354M
GATA2 T355del loss of function
GATA2 T356N unknown
GATA2 T477I unknown
GATA2 V296M unknown
GATA2 W10C unknown
GATA2 wild-type no effect
GATA2 Y213F unknown