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Gene | ABL1 |
Variant | F317C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 F317C lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317C has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 24382642, PMID: 15459011), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 F317C |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872902T>G |
cDNA | c.950T>G |
Protein | p.F317C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.6 | chr9:g.130872902T>G | c.950T>G | p.F317C | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130872902T>G | c.950T>G | p.F317C | RefSeq | GRCh38/hg38 |
NM_005157 | chr9:g.130872902T>G | c.950T>G | p.F317C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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