Gene Variant Detail

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Gene ATM
Variant Q2066L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM Q2066L lies within the FAT domain of the Atm protein (UniProt.org). Q2066L has been identified in sequencing studies (PMID: 26960398), 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 Q2066L

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Transcript NM_000051.3
gDNA chr11:g.108316112A>T
cDNA c.6197A>T
Protein p.Q2066L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542844 chr11:g.108329172A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_017017791 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_005271561 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_005271562 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_017017789 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_017017790 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
NM_000051 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_006718843 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_011542840 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_011542844.3 chr11:g.108329172A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_011542843 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108316112A>T c.6197A>T p.Q2066L RefSeq GRCh38/hg38

Filtering

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  • 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

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