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Gene | ALK |
Variant | F1245C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK F1245C lies within the protein kinase domain of the Alk protein (UniProt.org). F1245C results in increased downstream signaling and is transforming in cell culture (PMID: 21838707, PMID: 25517749). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK act mut ALK F1245C ALK mutant ALK F1245X ALK F1245C |
Transcript | NM_004304.5 |
gDNA | chr2:g.29213993A>C |
cDNA | c.3734T>G |
Protein | p.F1245C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29213993A>C | c.3734T>G | p.F1245C | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29213993A>C | c.3734T>G | p.F1245C | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29213993A>C | c.3734T>G | p.F1245C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK F1245C | gain of function | ALK Inhibitor |
ALK F1245C TP53 wild-type | ||
EML4 - ALK ALK F1245C | Ceritinib |