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Gene | ATRX |
Variant | R2109I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX R2109I lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2109I 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 R2109I |
Transcript | NM_000489.6 |
gDNA | chrX:g.77574250C>A |
cDNA | c.6326G>T |
Protein | p.R2109I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.4 | chrX:g.77574250C>A | c.6326G>T | p.R2109I | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77574250C>A | c.6326G>T | p.R2109I | RefSeq | GRCh38/hg38 |
XM_005262156 | chrX:g.77558681_77558682delCCinsGA | c.6326_6327delGGinsTC | p.R2109I | RefSeq | GRCh38/hg38 |
XM_005262156.5 | chrX:g.77558681_77558682delGGinsTC | c.6326_6327delGGinsTC | p.R2109I | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77574250C>A | c.6326G>T | p.R2109I | RefSeq | GRCh38/hg38 |
XM_005262156.4 | chrX:g.77558681_77558682delGGinsTC | c.6326_6327delGGinsTC | p.R2109I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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