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ATM L1420F - Gene Variant Detail

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Gene ATM
Variant L1420F
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions ATM L1420F does not lie within any known functional domains of the Atm protein (UniProt.org). L1420F demonstrates the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM L1420F

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Transcript NM_000051.4
gDNA chr11:g.108289623C>T
cDNA c.4258C>T
Protein p.L1420F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.3 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_006718843 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_005271562 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_011542843 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_017017791 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_017017789 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_011542840 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_017017790 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_017017792 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_005271561 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
NM_000051 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108289623C>T c.4258C>T p.L1420F RefSeq GRCh38/hg38

Filtering

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  • 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