ATM E2977Rfs*2
Gene Variant Detail

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Gene ATM
Variant E2977Rfs*2
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM E2977Rfs*2 indicates a shift in the reading frame starting at amino acid 2977 and terminating two residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). E2977Rfs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of E2977 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM E2977Rfs*2

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Transcript NM_000051.4
gDNA chr11:g.108365156_108365159dupAGAT
cDNA c.8925_8928dupAGAT
Protein p.E2977Rfs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006718843.4 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108365156_108365159dupAGAT c.8925_8928dupAGAT p.E2977Rfs*2 RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries