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Gene | ALK |
Variant | M1478T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK M1478T lies within the cytoplasmic domain of the Alk protein (UniProt.org). M1478T has been identified in sequencing studies (PMID: 27852271), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK M1478T |
Transcript | NM_004304.5 |
gDNA | chr2:g.29193654A>G |
cDNA | c.4433T>C |
Protein | p.M1478T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29193654A>G | c.4433T>C | p.M1478T | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29193654A>G | c.4433T>C | p.M1478T | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29193654A>G | c.4433T>C | p.M1478T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK M1478T | unknown |