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Gene ATM
Variant S2860del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions ATM S2860del results in the deletion of an amino acid in the PI3K/PI4K domain of the Atm protein at amino acid 2860 (UniProt.org). S2860del has been identified in the scientific literature (PMID: 8845835, PMID: 33127389), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM S2860del

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Transcript NM_000051.4
gDNA chr11:g.108345902_108345904delTCT
cDNA c.8578_8580delTCT
Protein p.S2860del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562.6 chr11:g.108345902_108345904delTCT c.8578_8580delTCT p.S2860del RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108345902_108345904delTCT c.8578_8580delTCT p.S2860del RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108345902_108345904delTCT c.8578_8580delTCT p.S2860del RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108345902_108345904delTCT c.8578_8580delTCT p.S2860del RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108345902_108345904delTCT c.8578_8580delTCT p.S2860del RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108345902_108345904delTCT c.8578_8580delTCT p.S2860del RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108345902_108345904delTCT c.8578_8580delTCT p.S2860del RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108345902_108345904delTCT c.8578_8580delTCT p.S2860del RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108345902_108345904delTCT c.8578_8580delTCT p.S2860del RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References