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Gene | ABL1 |
Variant | F311L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 F311L lies within the protein kinase domain of the Abl1 protein (UniProt.org). F311L has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040), 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 F311L |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872883T>C |
cDNA | c.931T>C |
Protein | p.F311L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130872883T>C | c.931T>C | p.F311L | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130872883T>C | c.931T>C | p.F311L | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130872883T>C | c.931T>C | p.F311L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ABL1 F311L | unknown |