Gene Variant Detail

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Gene ATM
Variant L2307F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM L2307F lies within the FAT domain of the Atm protein (UniProt.org). L2307F has been identified in the scientific literature (PMID: 28652578, PMID: 25625042, PMID: 32393777), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM L2307F

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Transcript NM_000051.3
gDNA chr11:g.108326169C>T
cDNA c.6919C>T
Protein p.L2307F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_017017790 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_011542843 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_011542840 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_005271562 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_017017789 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_006718843 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
XM_005271561 chr11:g.108326169C>T c.6919C>T p.L2307F RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108326169C>T c.6919C>T p.L2307F 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