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Gene | ATRX |
Variant | I2133M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX I2133M lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). I2133M has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX I2133M |
Transcript | NM_000489.6 |
gDNA | chrX:g.77558774A>C |
cDNA | c.6399T>G |
Protein | p.I2133M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.6 | chrX:g.77558774A>C | c.6399T>G | p.I2133M | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77558774A>C | c.6399T>G | p.I2133M | RefSeq | GRCh38/hg38 |
XM_005262153.5 | chrX:g.77558771T>C | c.6399A>G | p.I2133M | RefSeq | GRCh38/hg38 |
XM_005262153.6 | chrX:g.77558771T>C | c.6399A>G | p.I2133M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATRX mutant | high grade glioma | not applicable | N/A | Guideline | Diagnostic | ATRX mutations aid in the diagnosis of gliomas (NCCN.org). | detail... |