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Gene | ALK |
Variant | R1212C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK R1212C lies within the protein kinase domain of the Alk protein (UniProt.org). R1212C is not activating in an in vitro assay and is weakly transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK R1212C |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220717G>A |
cDNA | c.3634C>T |
Protein | p.R1212C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29220717G>A | c.3634C>T | p.R1212C | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220717G>A | c.3634C>T | p.R1212C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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