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Gene | ATM |
Variant | D351Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM D351Y does not lie within any known functional domains of the Atm protein (UniProt.org). D351Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM D351Y |
Transcript | NM_000051.4 |
gDNA | chr11:g.108247113G>T |
cDNA | c.1051G>T |
Protein | p.D351Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017790.2 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_047426979.1 | chr11:g.108249083G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_011542842.4 | chr11:g.108249083G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_047426978.1 | chr11:g.108249083G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_047426977.1 | chr11:g.108249083G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_011542842.3 | chr11:g.108249083G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_011542842 | chr11:g.108249083G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108247113G>T | c.1051G>T | p.D351Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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