Gene Variant Detail

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Gene ATM
Variant D2320N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM D2320N lies within the FAT domain of the Atm protein (UniProt.org). D2320N has been identified in sequencing studies (PMID: 26314984), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM D2320N

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Transcript NM_000051.3
gDNA chr11:g.108326208G>A
cDNA c.6958G>A
Protein p.D2320N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.3 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_005271561 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_011542840 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_011542843 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
NM_000051 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_017017790 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_005271562 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_006718843 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38
XM_017017789 chr11:g.108326208G>A c.6958G>A p.D2320N RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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