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@genomenon.com
Gene | ABL1 |
Variant | F317L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 F317L lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317L has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 30787317), and demonstrates reduced Abl1 kinase activity and transformation activity in the context of BCR-ABL1 compared to wild-type BCR-ABL1 (PMID: 17164333), but has not been individually characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 F317L |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872901T>C |
cDNA | c.949T>C |
Protein | p.F317L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130872901T>C | c.949T>C | p.F317L | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130872901T>C | c.949T>C | p.F317L | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130872901T>C | c.949T>C | p.F317L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|