Gene Variant Detail

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Gene ATM
Variant S214Pfs*16
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM S214Pfs*16 indicates a shift in the reading frame starting at amino acid 214 and terminating 16 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S214Pfs*16 has not been characterized, however, due to the effects of other truncation mutations downstream of S214 (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 S214fs ATM S214Pfs*16

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Transcript NM_000051.4
gDNA chr11:g.108244096delT
cDNA c.640delT
Protein p.S214Pfs*16
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.4 chr11:g.108244096delT c.640delT p.S214Pfs*16 RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108244096delT c.640delT p.S214Pfs*16 RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108244096delT c.640delT p.S214Pfs*16 RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108244096delT c.640delT p.S214Pfs*16 RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108244096delT c.640delT p.S214Pfs*16 RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108244096delT c.640delT p.S214Pfs*16 RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108244096delT c.640delT p.S214Pfs*16 RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108244096delT c.640delT p.S214Pfs*16 RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108244096delT c.640delT p.S214Pfs*16 RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108244096delT c.640delT p.S214Pfs*16 RefSeq GRCh38/hg38

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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
ATM S214Pfs*16 colorectal cancer sensitive ART0380 Preclinical - Pdx Actionable In a preclinical study, ART0380 inhibited tumor growth in a colorectal cancer patient-derived xenograft (PDX) model harboring ATM S214Pfs*16 (PMID: 38416404). 38416404