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Gene | ATRX |
Variant | R2271Kfs*14 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX R2271Kfs*14 indicates a shift in the reading frame starting at amino acid 2271 and terminating 14 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). R2271Kfs*14 has been identified in sequencing studies (PMID: 22869205), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX R2271Kfs*14 |
Transcript | NM_000489.6 |
gDNA | chrX:g.77523292_77523295delTCTT |
cDNA | c.6812_6815delGAAA |
Protein | p.R2271Kfs*14 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489 | chrX:g.77523292_77523295delTCTT | c.6812_6815delGAAA | p.R2271Kfs*14 | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77523292_77523295delTCTT | c.6812_6815delGAAA | p.R2271Kfs*14 | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77523292_77523295delTCTT | c.6812_6815delGAAA | p.R2271Kfs*14 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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