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Gene | ALK |
Variant | A1251T |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ALK A1251T lies within the protein kinase domain of the Alk protein (UniProt.org). A1251T results in loss of kinase activity in an in vitro assay and is not transforming in cultured cells (PMID: 33674381), and therefore, is predicted to lead to a loss of Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK inact mut ALK A1251T |
Transcript | NM_004304.5 |
gDNA | chr2:g.29209871C>T |
cDNA | c.3751G>A |
Protein | p.A1251T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29209871C>T | c.3751G>A | p.A1251T | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29209871C>T | c.3751G>A | p.A1251T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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