Gene Variant Detail

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Gene ATM
Variant A2274T
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions ATM A2274T lies within the FAT domain of the Atm protein (UniProt.org). A2274T demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 19431188), kinase activity, radiaosensitivity, and radiation-induced chromosome aberrations similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM A2274T

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Transcript NM_000051.3
gDNA chr11:g.108326070G>A
cDNA c.6820G>A
Protein p.A2274T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.3 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_005271561 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_011542843 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_011542844 chr11:g.108332837G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_011542840 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_005271562 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_011542844.3 chr11:g.108332837G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_017017789 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_006718843 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
NM_000051 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38
XM_017017790 chr11:g.108326070G>A c.6820G>A p.A2274T RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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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  • 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