ATM R2459C - Gene Variant Detail

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Gene ATM
Variant R2459C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM R2459C lies within the FAT domain of the Atm protein (UniProt.org). R2459C results in decreased ATM expression and demonstrates the ability to induce expression of TP53 target genes upon DNA damage in combination with P292R in patient-derived cells (PMID: 23585524), but has not been individually characterized and therefore, its effect on Atm protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM R2459C

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Transcript NM_000051.4
gDNA chr11:g.108330281C>T
cDNA c.7375C>T
Protein p.R2459C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_006718843 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_017017789 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_011542840 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_005271562 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_011542843 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_017017790 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108330281C>T c.7375C>T p.R2459C RefSeq GRCh38/hg38
XM_005271561 chr11:g.108330281C>T c.7375C>T p.R2459C 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

  • 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