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Gene | ATRX |
Variant | G2120E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX G2120E lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). G2120E has been identified in sequencing studies (PMID: 28069802, PMID: 29990500), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX G2120E |
Transcript | NM_000489.6 |
gDNA | chrX:g.77558814C>T |
cDNA | c.6359G>A |
Protein | p.G2120E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489 | chrX:g.77558814C>T | c.6359G>A | p.G2120E | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77558814C>T | c.6359G>A | p.G2120E | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77558814C>T | c.6359G>A | p.G2120E | 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... |