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Gene | ALK |
Variant | C1156F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK C1156F lies within the protein kinase domain of the Alk protein (UniProt.org). C1156F has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034, PMID: 30322862) and other Alk rearrangements (PMID: 36203454), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK C1156F |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222392C>A |
cDNA | c.3467G>T |
Protein | p.C1156F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29222392C>A | c.3467G>T | p.C1156F | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29222392C>A | c.3467G>T | p.C1156F | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222392C>A | c.3467G>T | p.C1156F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK C1156F | unknown |