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Gene ATM
Variant E2294G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM E2294G lies within the FAT domain of the Atm protein (UniProt.org). E2294G has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM E2294G

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Transcript NM_000051.4
gDNA chr11:g.108326131A>G
cDNA c.6881A>G
Protein p.E2294G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001351834.1 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38

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  • 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