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Gene ATM
Variant M2520fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM M2520fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2520 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). M2520fs has not been characterized, however, due to the effects of other truncation mutations downstream of M2520 (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 M2520fs

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Transcript NM_000051.4
gDNA chr11:g.(108331485_108331486)
cDNA c.(7558_7557)
Protein p.M2520fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542843.3 chr11:g.(108331485_108331486) c.(7558_7557) p.M2520fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108331485_108331486) c.(7558_7557) p.M2520fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108331485_108331486) c.(7558_7557) p.M2520fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108331485_108331486) c.(7558_7557) p.M2520fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108331485_108331486) c.(7558_7557) p.M2520fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108331485_108331486) c.(7558_7557) p.M2520fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108331485_108331486) c.(7558_7557) p.M2520fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108331485_108331486) c.(7558_7557) p.M2520fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108331485_108331486) c.(7558_7557) p.M2520fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

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Molecular Profile Protein Effect Treatment Approaches
ATM M2520fs loss of function - predicted Olaparib