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Gene Symbol DNMT3A
Synonyms DNMT3A2 | HESJAS | M.HsaIIIA | TBRS
Gene Description DNMT3A, DNA methyltransferase 3 alpha, mediates DNA methylation and functions in modification of gene expression, and plays a role in hematopoietic differentiation (PMID: 28286768, PMID: 25693834). DNMT3A mutations are frequent in acute myeloid leukemia, and are recurrent in myelodysplastic syndromes (PMID: 28286768, PMID: 28003281).

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Molecular Profile Protein Effect Treatment Approaches
DNMT3A A121S unknown
DNMT3A A376T unknown
DNMT3A A741V unknown
DNMT3A A910V unknown
DNMT3A act mut gain of function
DNMT3A amp no effect
DNMT3A C497Y unknown
DNMT3A C911Y unknown
DNMT3A D768A no effect - predicted
DNMT3A D811Y unknown
DNMT3A D876G loss of function
DNMT3A del loss of function
DNMT3A del TET2 del
DNMT3A E240* loss of function - predicted
DNMT3A E240fs loss of function - predicted
DNMT3A E285* loss of function - predicted
DNMT3A E30A unknown
DNMT3A E477* loss of function - predicted
DNMT3A E505* loss of function - predicted
DNMT3A E616fs loss of function
DNMT3A E664K unknown
DNMT3A E733A loss of function
DNMT3A F414S unknown
DNMT3A F731fs loss of function - predicted
DNMT3A F732A loss of function
DNMT3A F732del unknown
DNMT3A F751fs loss of function - predicted
DNMT3A F752V loss of function - predicted
DNMT3A F772A gain of function - predicted
DNMT3A F868S unknown
DNMT3A F902S unknown
DNMT3A F909C unknown
DNMT3A G104E unknown
DNMT3A G302del unknown
DNMT3A G543C unknown
DNMT3A G590fs loss of function - predicted
DNMT3A G685E unknown
DNMT3A G699fs loss of function - predicted
DNMT3A G707fs loss of function - predicted
DNMT3A G746V unknown
DNMT3A G890D unknown
DNMT3A H739A no effect - predicted
DNMT3A H873A loss of function
DNMT3A H873R loss of function
DNMT3A I407T unknown
DNMT3A I643M unknown
DNMT3A inact mut loss of function
DNMT3A K299I unknown
DNMT3A K721R unknown
DNMT3A K829R unknown
DNMT3A K841E loss of function
DNMT3A K841Q unknown
DNMT3A L723fs loss of function
DNMT3A L737F unknown
DNMT3A L805* loss of function - predicted
DNMT3A loss loss of function
DNMT3A loss TET2 loss
DNMT3A loss FLT3 exon 14 ins TET2 loss
DNMT3A loss FLT3 exon 14 ins
DNMT3A M513I unknown
DNMT3A M880I unknown
DNMT3A mutant unknown
DNMT3A mut TET2 mut
DNMT3A mut FLT3 exon 14 ins TET2 mut
DNMT3A N838D loss of function
DNMT3A N879A loss of function
DNMT3A over exp no effect
DNMT3A P569_A574del unknown
DNMT3A P59L unknown
DNMT3A P619Lfs*32 loss of function - predicted
DNMT3A P709S loss of function - predicted
DNMT3A P718L loss of function
DNMT3A P777R loss of function - predicted
DNMT3A P904L unknown
DNMT3A Q237* loss of function - predicted
DNMT3A Q249* loss of function - predicted
DNMT3A Q485H unknown
DNMT3A Q515* loss of function
DNMT3A Q606* loss of function - predicted
DNMT3A Q615* loss of function
DNMT3A Q886* loss of function - predicted
DNMT3A Q886E unknown
DNMT3A R19W unknown
DNMT3A R301W unknown
DNMT3A R320* loss of function - predicted
DNMT3A R478Q unknown
DNMT3A R556M unknown
DNMT3A R598* loss of function - predicted
DNMT3A R635G loss of function - predicted
DNMT3A R635W loss of function
DNMT3A R659H unknown
DNMT3A R720C unknown
DNMT3A R729A loss of function
DNMT3A R729Q unknown
DNMT3A R729W loss of function - predicted
DNMT3A R736A loss of function
DNMT3A R736C loss of function - predicted
DNMT3A R736E loss of function - predicted
DNMT3A R736F loss of function - predicted
DNMT3A R736H unknown
DNMT3A R736K no effect - predicted
DNMT3A R736Q loss of function - predicted
DNMT3A R736W loss of function - predicted
DNMT3A R736Y loss of function - predicted
DNMT3A R749C loss of function - predicted
DNMT3A R771* loss of function - predicted
DNMT3A R771A loss of function
DNMT3A R771G unknown
DNMT3A R771L loss of function - predicted
DNMT3A R771P loss of function - predicted
DNMT3A R771Q unknown
DNMT3A R792Afs*10 loss of function - predicted
DNMT3A R792H loss of function
DNMT3A R792S unknown
DNMT3A R803S unknown
DNMT3A R831Q loss of function
DNMT3A R836A loss of function - predicted
DNMT3A R836W loss of function - predicted
DNMT3A R882C loss of function
DNMT3A R882H loss of function
DNMT3A R882H NRAS G12D
DNMT3A R882P loss of function
DNMT3A R882S loss of function
DNMT3A R885A loss of function
DNMT3A R899H unknown
DNMT3A S352N unknown
DNMT3A S714C loss of function
DNMT3A S837* loss of function - predicted
DNMT3A S837* JAK2 V617F
DNMT3A S894R unknown
DNMT3A T835M loss of function
DNMT3A V296M unknown
DNMT3A V636M unknown
DNMT3A V649M unknown
DNMT3A V716D loss of function
DNMT3A V716G loss of function
DNMT3A V716I unknown
DNMT3A V785M unknown
DNMT3A W305* loss of function - predicted
DNMT3A W306* loss of function - predicted
DNMT3A W313* loss of function - predicted
DNMT3A W409C unknown
DNMT3A W601* loss of function - predicted
DNMT3A W860A loss of function
DNMT3A W860R unknown
DNMT3A W893S loss of function - predicted
DNMT3A wild-type no effect
DNMT3A Y436* loss of function - predicted
DNMT3A Y528_S535dup unknown
DNMT3A Y533C unknown
DNMT3A Y735A loss of function - predicted
DNMT3A Y735C loss of function - predicted
DNMT3A Y735S unknown
DNMT3A Y793* loss of function - predicted