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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 | loss of function | |
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 | loss of function | |
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 |