Gene Variant Detail

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Gene ATM
Variant K224E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM K224E does not lie within any known functional domains of the Atm protein (UniProt.org). K224E demonstrates the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), but demonstrates decreased Atm activity in patient-derived cells in another study (PMID: 36029002), and therefore, its effect on Atm protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM K224E

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Transcript NM_000051.4
gDNA chr11:g.108244795A>G
cDNA c.670A>G
Protein p.K224E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542843.2 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
NM_000051 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_017017792 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_006718845.2 chr11:g.108293415A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_006718845.3 chr11:g.108293415A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_005271561 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_005271562 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_017017790 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_011542843 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_017017791 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_011542840 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_006718845 chr11:g.108293415A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_017017789 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
XM_006718843 chr11:g.108244795A>G c.670A>G p.K224E RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108244795A>G c.670A>G p.K224E 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