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Gene | ATRX |
Variant | V128A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX V128A does not lie within any known functional domains of the Atrx protein (UniProt.org). V128A has been identified in sequencing studies (PMID: 25848751), 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 V128A |
Transcript | NM_000489.6 |
gDNA | chrX:g.77693925A>G |
cDNA | c.383T>C |
Protein | p.V128A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.4 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_005262154 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_005262153 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_005262154.5 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_005262153.5 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_017029601.2 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_017029601 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_017029601.3 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_005262153.6 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_005262154.6 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77693925A>G | c.383T>C | p.V128A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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