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| Gene | ATM |
| Variant | D983N |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATM D983N does not lie within any known functional domains of the Atm protein (UniProt.org). D983N has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATM mutant ATM D983N |
| Transcript | NM_000051.4 |
| gDNA | chr11:g.108271276G>A |
| cDNA | c.2947G>A |
| Protein | p.D983N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001351834.2 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| NM_000051.4 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_005271562.5 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_005271562.6 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_011542843.2 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_011542840.4 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_047426975.1 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_047426976.1 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_017017790.2 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_006718843.4 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_011542843.3 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| NM_000051.3 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_017017792.2 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_017017789.2 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_017017790.3 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_047426981.1 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_017017791.1 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_011542840.3 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| XM_006718843.5 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| NM_001351834.1 | chr11:g.108271276G>A | c.2947G>A | p.D983N | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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