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ATM L1322I - Gene Variant Detail

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Gene ATM
Variant L1322I
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions ATM L1322I does not lie within any known functional domains of the Atm protein (UniProt.org). L1322I results in Atm expression and phosphorylation levels of Atm and downstream targets similar to wild-type Atm in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to have no effect on Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM L1322I

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Transcript NM_000051.4
gDNA chr11:g.108284444C>A
cDNA c.3964C>A
Protein p.L1322I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006718843 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
NM_000051 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_011542843 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_005271561 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_011542840 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_017017791 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_017017790 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_005271562 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_017017792 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38
XM_017017789 chr11:g.108284444C>A c.3964C>A p.L1322I RefSeq GRCh38/hg38

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  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References