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Gene | ATM |
Variant | R2032K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM R2032K lies within the FAT domain of the Atm protein (UniProt.org). R2032K results in aberrant splicing of ATM mRNA, leading to skipping of exon 43 (PMID: 9887333), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM R2032K |
Transcript | NM_000051.4 |
gDNA | chr11:g.108315911G>A |
cDNA | c.6095G>A |
Protein | p.R2032K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542843.2 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_011542844.4 | chr11:g.108329070G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_011542844 | chr11:g.108329070G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_011542844.3 | chr11:g.108329070G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108315911G>A | c.6095G>A | p.R2032K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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