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Gene | ABL1 |
Variant | A356T |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ABL1 A356T (corresponds to A337T in the canonical isoform) lies within the protein kinase domain of the Abl1 protein (UniProt.org). A356T 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 A356T |
Transcript | NM_007313.3 |
gDNA | chr9:g.130872961G>A |
cDNA | c.1066G>A |
Protein | p.A356T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007313.3 | chr9:g.130872961G>A | c.1066G>A | p.A356T | RefSeq | GRCh38/hg38 |
NM_007313.2 | chr9:g.130872961G>A | c.1066G>A | p.A356T | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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