Gene Variant Detail

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Gene ATM
Variant M2531T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM M2531T lies within the FAT domain of the Atm protein (UniProt.org). M2531T has been identified in sequencing studies (PMID: 27978560, PMID: 19781682), 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 M2531T

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Transcript NM_000051.3
gDNA chr11:g.108331520T>C
cDNA c.7592T>C
Protein p.M2531T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562.5 chr11:g.108331520T>C c.7592T>C p.M2531T RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108331520T>C c.7592T>C p.M2531T RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108331520T>C c.7592T>C p.M2531T RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108331520T>C c.7592T>C p.M2531T RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108331520T>C c.7592T>C p.M2531T RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108331520T>C c.7592T>C p.M2531T RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108331520T>C c.7592T>C p.M2531T RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108331520T>C c.7592T>C p.M2531T 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