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Gene | ABL1 |
Variant | T315N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 T315N lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315N has been associated with resistance to Abl1 inhibitors (PMID: 16046538), 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 T315N |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872896C>A |
cDNA | c.944C>A |
Protein | p.T315N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.5 | chr9:g.130872896C>A | c.944C>A | p.T315N | RefSeq | GRCh38/hg38 |
NM_005157 | chr9:g.130872896C>A | c.944C>A | p.T315N | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130872896C>A | c.944C>A | p.T315N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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