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ATM A302fs - Gene Variant Detail

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Gene ATM
Variant A302fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM A302fs results in a change in the amino acid sequence of the Atm protein beginning at aa 302 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). A302fs results in decreased protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM A302fs

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Transcript NM_000051.4
gDNA chr11:g.(108246965_108246966)
cDNA c.(904_903)
Protein p.A302fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_005271561 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
NM_000051 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_011542840 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_017017789 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_017017790 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_011542843 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_017017791 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_006718843 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_017017792 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.(108246965_108246966) c.(904_903) p.A302fs RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References