ATM L2427_R2428del - Gene Variant Detail

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Gene ATM
Variant L2427_R2428del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM L2427_R2428del results in the deletion of two amino acids in the FAT domain of the Atm protein from amino acids 2427 to 2428 (UniProt.org). L2427_R2428del results in decreased protein expression and a loss of phosphorylation of Atm and 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 L2427_R2428del

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Transcript NM_000051.4
gDNA chr11:g.108329210_108329215delCTTAGG
cDNA c.7279_7284delCTTAGG
Protein p.L2427_R2428delLR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542843.3 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428delLR RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_047426979.1 chr11:g.108330350_108330355delATGTGG c.7279_7284delATGTGG p.M2427_W2428delMW RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428delLR RefSeq GRCh38/hg38
XM_011542844.4 chr11:g.108343276_108343281delCCCATT c.7279_7284delCCCATT p.P2427_I2428delPI RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428delLR RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_011542842.4 chr11:g.108330350_108330355delATGTGG c.7279_7284delATGTGG p.M2427_W2428delMW RefSeq GRCh38/hg38
XM_017017789 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428delLR RefSeq GRCh38/hg38
NM_000051 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_011542843 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_047426978.1 chr11:g.108330350_108330355delATGTGG c.7279_7284delATGTGG p.M2427_W2428delMW RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_017017790 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428delLR RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428delLR RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_005271561 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_011542840 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428delLR RefSeq GRCh38/hg38
XM_006718843 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_047426977.1 chr11:g.108330350_108330355delATGTGG c.7279_7284delATGTGG p.M2427_W2428delMW RefSeq GRCh38/hg38
XM_005271562 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428delLR RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428del RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108329210_108329215delCTTAGG c.7279_7284delCTTAGG p.L2427_R2428delLR 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References