Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene ATM
Variant F2827C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM F2827C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2827C results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and failure to from foci in response to irradiation in culture (PMID: 19431188).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM F2827C

Filtering

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

Transcript NM_000051.3
gDNA chr11:g.108345804T>G
cDNA c.8480T>G
Protein p.F2827C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542843.2 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_017017790 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_011542840 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
NM_000051 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_017017789 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_005271562 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_011542843 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_005271561 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_006718843 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108345804T>G c.8480T>G p.F2827C RefSeq GRCh38/hg38

Filtering

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