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Gene | ALK |
Variant | P1139S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK P1139S lies within the protein kinase domain of the Alk protein (UniProt.org). P1139S has been associated with decreased sensitivity to some ALK inhibitors in the context of NPM1-ALK (PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK P1139S |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222552G>A |
cDNA | c.3415C>T |
Protein | p.P1139S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29222552G>A | c.3415C>T | p.P1139S | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29222552G>A | c.3415C>T | p.P1139S | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222552G>A | c.3415C>T | p.P1139S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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