Gene Variant Detail

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Gene ATM
Variant K1807E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM K1807E does not lie within any known functional domains of the Atm protein (UniProt.org). K1807E results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM K1807E

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Transcript NM_000051.4
gDNA chr11:g.108302952A>G
cDNA c.5419A>G
Protein p.K1807E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017789 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_005271562 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_006718843 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017790 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542840 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542843 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
NM_000051 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017791 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_005271561 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108302952A>G c.5419A>G p.K1807E 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