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Gene | ATM |
Variant | T2031I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM T2031I lies within the FAT domain of the Atm protein (UniProt.org). T2031I restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to have no effect on Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM T2031I |
Transcript | NM_000051.4 |
gDNA | chr11:g.108315908C>T |
cDNA | c.6092C>T |
Protein | p.T2031I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017791.1 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108315908C>T | c.6092C>T | p.T2031I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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