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Gene | ATM |
Variant | D1285G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM D1285G does not lie within any known functional domains of the Atm protein (UniProt.org). D1285G has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM D1285G |
Transcript | NM_000051.4 |
gDNA | chr11:g.108284334A>G |
cDNA | c.3854A>G |
Protein | p.D1285G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047426981.1 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108284334A>G | c.3854A>G | p.D1285G | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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