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Gene | ATM |
Variant | K468fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM K468fs results in a change in the amino acid sequence of the Atm protein beginning at 468 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). K468fs has not been characterized, however, due to the effects of other truncation mutations downstream of K468 (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 K468fs |
Transcript | NM_000051.4 |
gDNA | chr11:g.(108250866_108250867) |
cDNA | c.(1402_1401) |
Protein | p.K468fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000051 | chr11:g.108250867_108250868delAA | c.1402_1403delAA | p.K468fs*18 | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108250867_108250868delAA | c.1402_1403delAA | p.K468fs*18 | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108250867_108250868delAA | c.1402_1403delAA | p.K468fs*18 | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108250867_108250868delAA | c.1402_1403delAA | p.K468fs*18 | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108250867_108250868delAA | c.1402_1403delAA | p.K468fs*18 | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108250867_108250868delAA | c.1402_1403delAA | p.K468fs*18 | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108250867_108250868delAA | c.1402_1403delAA | p.K468fs*18 | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108250867_108250868delAA | c.1402_1403delAA | p.K468fs*18 | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108250867_108250868delAA | c.1402_1403delAA | p.K468fs*18 | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108250867_108250868delAA | c.1402_1403delAA | p.K468fs*18 | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.(108250866_108250867) | c.(1402_1401) | p.K468fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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