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Gene | ABL1 |
Variant | S972L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 S972L lies in the F-actin-binding region of the Abl1 protein (UniProt.org). S972L has been identified in sequencing studies (PMID: PMID: 25082755) but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ABL1 mutant ABL1 S972L |
Transcript | NM_005157.6 |
gDNA | chr9:g.130885205C>T |
cDNA | c.2915C>T |
Protein | p.S972L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130885205C>T | c.2915C>T | p.S972L | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130885205C>T | c.2915C>T | p.S972L | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130885205C>T | c.2915C>T | p.S972L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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