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ATM S2761Vfs*41 - Gene Variant Detail

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Gene ATM
Variant S2761Vfs*41
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM S2761Vfs*41 indicates a shift in the reading frame starting at amino acid 2761 and terminating 41 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S2761Vfs*41 has not been characterized, however, due to the effects of other truncation mutations downstream of S2761 (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 S2761Vfs*41

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Transcript NM_000051.4
gDNA chr11:g.(108343234_108343359)
cDNA c.(8281_8406)
Protein p.S2761Vfs*41
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562.6 chr11:g.(108343234_108343359) c.(8281_8406) p.S2761Vfs*41 RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108343234_108343359) c.(8281_8406) p.S2761Vfs*41 RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108343234_108343359) c.(8281_8406) p.S2761Vfs*41 RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108343234_108343359) c.(8281_8406) p.S2761Vfs*41 RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108343234_108343359) c.(8281_8406) p.S2761Vfs*41 RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108343234_108343359) c.(8281_8406) p.S2761Vfs*41 RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108343234_108343359) c.(8281_8406) p.S2761Vfs*41 RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108343234_108343359) c.(8281_8406) p.S2761Vfs*41 RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108343234_108343359) c.(8281_8406) p.S2761Vfs*41 RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries