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Gene | ATRX |
Variant | E1446* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX E1446* results in a premature truncation of the Atrx protein at amino acid 1446 of 2492 (UniProt.org). Due to the loss of helicase domains (UniProt.org), E1446* is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX E1446* |
Transcript | NM_000489.6 |
gDNA | chrX:g.77652335C>A |
cDNA | c.4336G>T |
Protein | p.E1446* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005262156.4 | chrX:g.77652170C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_005262153.6 | chrX:g.77652332C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_017029607.2 | chrX:g.77636044C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_005262156 | chrX:g.77652170C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77652335C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_005262153 | chrX:g.77652332C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77652335C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77652335C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_017029604 | chrX:g.77652134C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_017029603.1 | chrX:g.77652167C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_017029603 | chrX:g.77652167C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77652335C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_017029604.3 | chrX:g.77652134C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77652335C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77652335C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_005262156.5 | chrX:g.77652170C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_017029607 | chrX:g.77636044C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77652335C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_005262153.5 | chrX:g.77652332C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
XM_017029604.2 | chrX:g.77652134C>A | c.4336G>T | p.E1446* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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