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Gene ATM
Variant F2516C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM F2516C lies within the FAT domain of the Atm protein (UniProt.org). F2516C has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM F2516C

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Transcript NM_000051.4
gDNA chr11:g.108331475T>G
cDNA c.7547T>G
Protein p.F2516C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.3 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_011542842.4 chr11:g.108331961T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_047426977.1 chr11:g.108331961T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_047426978.1 chr11:g.108331961T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_047426979.1 chr11:g.108331961T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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