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Gene | ATM |
Variant | T2902fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM T2902fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2902 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). T2902fs has not been characterized, however, due to the effects of other truncation mutations downstream of T2902 (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 T2902fs |
Transcript | NM_000051.4 |
gDNA | chr11:g.(108353797_108353798) |
cDNA | c.(8704_8703) |
Protein | p.T2902fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017790 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.(108353797_108353798) | c.(8704_8703) | p.T2902fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM T2902fs | loss of function - predicted | Olaparib |