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Gene | ALK |
Variant | D1270G |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ALK D1270G lies within the protein kinase domain of the Alk protein (UniProt.org). D1270G results in loss of kinase activity in in vitro assays and is not transforming in culture (PMID: 33674381, PMID: 25517749), and therefore, is predicted to lead to a loss of Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK inact mut ALK D1270G |
Transcript | NM_004304.5 |
gDNA | chr2:g.29209813T>C |
cDNA | c.3809A>G |
Protein | p.D1270G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29209813T>C | c.3809A>G | p.D1270G | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29209813T>C | c.3809A>G | p.D1270G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK D1270G | loss of function - predicted |