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Gene ATM
Variant Q1627*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM Q1627* results in a premature truncation of the Atm protein at amino acid 1627 of 3056 (UniProt.org). Q1627* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1627 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM Q1627*

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Transcript NM_000051.4
gDNA chr11:g.108295029C>T
cDNA c.4879C>T
Protein p.Q1627*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562.6 chr11:g.108295029C>T c.4879C>T p.Q1627* RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108295029C>T c.4879C>T p.Q1627* RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108295029C>T c.4879C>T p.Q1627* RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108295029C>T c.4879C>T p.Q1627* RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108295029C>T c.4879C>T p.Q1627* RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108295029C>T c.4879C>T p.Q1627* RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108295029C>T c.4879C>T p.Q1627* RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108295029C>T c.4879C>T p.Q1627* RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108295029C>T c.4879C>T p.Q1627* RefSeq GRCh38/hg38

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries