ATM E2039K
Gene Variant Detail

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Gene ATM
Variant E2039K
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM E2039K lies within the FAT domain of the Atm protein (UniProt.org). E2039K retains protein stability but results in decreased phosphorylation of Atm downstream targets in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM E2039K

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Transcript NM_000051.4
gDNA chr11:g.108316030G>A
cDNA c.6115G>A
Protein p.E2039K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.2 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_047426978.1 chr11:g.108317454G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_006718843 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_047426977.1 chr11:g.108317454G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542842.3 chr11:g.108317454G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017791 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_005271561 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542843 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542842 chr11:g.108317454G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_047426979.1 chr11:g.108317454G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017790 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542840 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_005271562 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017789 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
NM_000051 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542842.4 chr11:g.108317454G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108316030G>A c.6115G>A p.E2039K 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries