ATM V2664del - Gene Variant Detail

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Gene ATM
Variant V2664del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions ATM V2664del results in the deletion of an amino acid of the Atm protein at amino acid 2664 (UniProt.org). V2664del (reported as V2662del) confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM V2664del

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Transcript NM_000051.4
gDNA chr11:g.108333948_108333950delGTC
cDNA c.7990_7992delGTC
Protein p.V2664del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562.6 chr11:g.108333948_108333950delGTC c.7990_7992delGTC p.V2664del RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108333948_108333950delGTC c.7990_7992delGTC p.V2664del RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108333948_108333950delGTC c.7990_7992delGTC p.V2664del RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108333948_108333950delGTC c.7990_7992delGTC p.V2664del RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108333948_108333950delGTC c.7990_7992delGTC p.V2664del RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108333948_108333950delGTC c.7990_7992delGTC p.V2664del RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108333948_108333950delGTC c.7990_7992delGTC p.V2664del RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108333948_108333950delGTC c.7990_7992delGTC p.V2664del RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108333948_108333950delGTC c.7990_7992delGTC p.V2664del 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References