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Gene | ATRX |
Variant | R78Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX R78Q does not lie within any known functional domains of the Atrx protein (UniProt.org). R78Q has been identified in sequencing studies (PMID: 29793804, PMID: 24807215), 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 R78Q |
Transcript | NM_000489.6 |
gDNA | chrX:g.77697592C>T |
cDNA | c.233G>A |
Protein | p.R78Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005262154.6 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_005262157 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_005262154.5 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_005262153 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
NM_138270 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_005262157.5 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_005262153.6 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_017029601 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_005262154 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
NM_138270.3 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_006724666.5 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_017029604.2 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_006724666 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_017029601.2 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_017029604.3 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_017029601.3 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_005262157.6 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_006724666.4 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_005262153.5 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
XM_017029604 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
NM_138270.5 | chrX:g.77697592C>T | c.233G>A | p.R78Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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