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Gene | ATRX |
Variant | E1547G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX E1547G does not lie within any known functional domains of the Atrx protein (UniProt.org). E1547G 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 E1547G |
Transcript | NM_000489.6 |
gDNA | chrX:g.77635974T>C |
cDNA | c.4640A>G |
Protein | p.E1547G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006724668 | chrX:g.77635974T>C | c.4640A>G | p.E1547G | RefSeq | GRCh38/hg38 |
XM_017029601 | chrX:g.77634673T>C | c.4640A>G | p.E1547G | RefSeq | GRCh38/hg38 |
XM_017029601.2 | chrX:g.77634673T>C | c.4640A>G | p.E1547G | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77635974T>C | c.4640A>G | p.E1547G | RefSeq | GRCh38/hg38 |
XM_017029601.3 | chrX:g.77634673T>C | c.4640A>G | p.E1547G | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77635974T>C | c.4640A>G | p.E1547G | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77635974T>C | c.4640A>G | p.E1547G | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77635974T>C | c.4640A>G | p.E1547G | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77635974T>C | c.4640A>G | p.E1547G | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77635974T>C | c.4640A>G | p.E1547G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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