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Gene | ATRX |
Variant | R2085P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX R2085P lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2085P 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 R2085P |
Transcript | NM_000489.6 |
gDNA | chrX:g.77574322C>G |
cDNA | c.6254G>C |
Protein | p.R2085P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005262157.5 | chrX:g.77558715C>G | c.6254G>C | p.R2085P | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77574322C>G | c.6254G>C | p.R2085P | RefSeq | GRCh38/hg38 |
XM_006724667.3 | chrX:g.77557617C>G | c.6254G>C | p.R2085P | RefSeq | GRCh38/hg38 |
XM_005262157.6 | chrX:g.77558715C>G | c.6254G>C | p.R2085P | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77574322C>G | c.6254G>C | p.R2085P | RefSeq | GRCh38/hg38 |
XM_017029605 | chrX:g.77558715C>G | c.6254G>C | p.R2085P | RefSeq | GRCh38/hg38 |
XM_017029605.1 | chrX:g.77558715C>G | c.6254G>C | p.R2085P | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77574322C>G | c.6254G>C | p.R2085P | RefSeq | GRCh38/hg38 |
XM_006724667 | chrX:g.77557617C>G | c.6254G>C | p.R2085P | RefSeq | GRCh38/hg38 |
XM_005262157 | chrX:g.77558715C>G | c.6254G>C | p.R2085P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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