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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 |
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_047426976.1 | 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_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 |
NM_000051.4 | 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 |
XM_005271562.6 | 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 |
XM_011542843.3 | chr11:g.108345902_108345904delTCT | c.8578_8580delTCT | p.S2860del | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM S2860del | unknown |