Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | ATRX |
Variant | I1049* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX I1049* results in a premature truncation of the Atrx protein at amino acid 1049 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), I1049* is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX I1049* |
Transcript | NM_000489.6 |
gDNA | chrX:g.77682110_77682111delATinsTA |
cDNA | c.3145_3146delATinsTA |
Protein | p.I1049* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.4 | chrX:g.77682110_77682111delATinsTA | c.3145_3146delATinsTA | p.I1049* | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77682110_77682111delATinsTA | c.3145_3146delATinsTA | p.I1049* | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77682110_77682111delATinsTA | c.3145_3146delATinsTA | p.I1049* | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77682110_77682111delATinsTA | c.3145_3146delATinsTA | p.I1049* | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77682110_77682111delATinsTA | c.3145_3146delATinsTA | p.I1049* | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77682110_77682111delATinsTA | c.3145_3146delATinsTA | p.I1049* | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77682110_77682111delATinsTA | c.3145_3146delATinsTA | p.I1049* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|