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Gene | ABL1 |
Variant | A337T |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ABL1 A337T lies within the protein kinase domain of the Abl1 protein (UniProt.org). A337T confers a gain of function to the Abl1 protein as demonstrated by increased phosphorylation of STAT5 and ABL1 and elevated total phosphotyrosine levels in cultured cells (PMID: 28288113). |
Associated Drug Resistance | |
Category Variants Paths |
ABL1 mutant ABL1 act mut ABL1 A337T |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872961G>A |
cDNA | c.1009G>A |
Protein | p.A337T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.6 | chr9:g.130872961G>A | c.1009G>A | p.A337T | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130872961G>A | c.1009G>A | p.A337T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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