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Gene | ATM |
Variant | E1072* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM E1072* results in a premature truncation of the Atm protein at amino acid 1072 of 3056 (UniProt.org). E1072* has not been characterized, however, due to the effects of other truncation mutations downstream of E1072 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM E1072* |
Transcript | NM_000051.4 |
gDNA | chr11:g.108272782G>T |
cDNA | c.3214G>T |
Protein | p.E1072* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047426976.1 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108272782G>T | c.3214G>T | p.E1072* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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