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Gene DNMT3A
Variant R598*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A R598* results in a premature truncation of the Dnmt3a protein at amino acid 598 of 912 (UniProt.org). R598* has not been characterized, however, due to the effects of other truncation mutations downstream of R598 (PMID: 28872462, PMID: 26595813, PMID: 35639959), is predicted to lead to a loss of Dnmt3a protein function.
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A R598*

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Transcript NM_022552.5
gDNA chr2:g.25244214G>A
cDNA c.1792C>T
Protein p.R598*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_175629.2 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
NM_175629 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
XM_011532664 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
NM_022552 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
XM_017003526 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
XM_005264175 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25244214G>A c.1792C>T p.R598* RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References