ATM T2947S
Gene Variant Detail

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Gene ATM
Variant T2947S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM T2947S (also referred to as T2946S) lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). T2947S results in decreased kinase activity in a patient sample (PMID: 16014569), decreased ATM-dependent DNA damage response in a patient sample (PMID: 25840602), and decreased Atm, Tp53, and Smc1 phosphorylation upon DNA damage in a patient sample (PMID: 17968022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM T2947S

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Transcript NM_000051.4
gDNA chr11:g.108354864C>G
cDNA c.8840C>G
Protein p.T2947S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.3 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_005271561 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_017017790 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_011542840 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_006718843 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
NM_000051 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_005271562 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_017017789 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108354864C>G c.8840C>G p.T2947S RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108354864C>G c.8840C>G p.T2947S 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