Gene Variant Detail

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Gene ATM
Variant L1408I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM L1408I does not lie within any known functional domains of the Atm protein (UniProt.org). L1408I has been identified in sequencing studies (PMID: 29107334, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM L1408I

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Transcript NM_000051.4
gDNA chr11:g.108289089C>A
cDNA c.4222C>A
Protein p.L1408I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017791.1 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_017017792 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
NM_000051 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_006718843 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_011542843 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_005271561 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_017017789 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_005271562 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_017017791 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_017017790 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38
XM_011542840 chr11:g.108289089C>A c.4222C>A p.L1408I RefSeq GRCh38/hg38

Filtering

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