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Gene ATM
Variant D2016G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM D2016G lies within the FAT domain of the Atm protein (UniProt.org). D2016G confers a loss of function to the Atm protein as demonstrated by increased chromosomal breaks and reduced DNA repair following irradiation compared to wild-type Atm in patient cells (PMID: 33551102), reduced Atm protein expression, and increased radiosensitivity in cultured cells (PMID: 18634022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM D2016G

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Transcript NM_000051.4
gDNA chr11:g.108315863A>G
cDNA c.6047A>G
Protein p.D2016G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.3 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108315863A>G c.6047A>G p.D2016G 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.
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Molecular Profile Protein Effect Treatment Approaches
ATM D2016G loss of function