Gene Variant Detail

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Gene ATM
Variant Q3038*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions ATM Q3038* results in a premature truncation of the Atm protein at amino acid 3038 of 3056 (UniProt.org). Q3038* has not been characterized in the scientific literature, and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM Q3038*

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Transcript NM_000051.3
gDNA chr11:g.108365449C>T
cDNA c.9112C>T
Protein p.Q3038*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
XM_011542840 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
XM_017017789 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
XM_006718843 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
XM_005271562 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
XM_005271561 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38
NM_000051 chr11:g.108365449C>T c.9112C>T p.Q3038* RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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