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Gene | ATM |
Variant | I10fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM I10fs results in a change in the amino acid sequence of the Atm protein beginning at aa 10 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I10fs has not been characterized, however, due to the effects of other truncation mutations downstream of I10 (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 I10fs |
Transcript | NM_000051.4 |
gDNA | chr11:g.(108227651_108227652) |
cDNA | c.(28_27) |
Protein | p.I10fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047426978.1 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
NM_001351836.1 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_011542842.4 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_047426977.1 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
NM_001351836.2 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_011542842.3 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_011542842 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
NM_001351835.1 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
NM_001351835.2 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_047426979.1 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.(108227651_108227652) | c.(28_27) | p.I10fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM I10fs | loss of function - predicted | Olaparib |