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Gene | ALK |
Variant | G1128A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK G1128A lies within the protein kinase domain of the Alk protein (UniProt.org). G1128A confers a gain of function to the Alk protein as demonstrated by increased activation in in vitro assays (PMID: 21838707, PMID: 33674381, PMID: 25517749) and transformation in cultured cells (PMID: 21838707, PMID: 33674381, PMID: 25517749). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK G1128A |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222584C>G |
cDNA | c.3383G>C |
Protein | p.G1128A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29222584C>G | c.3383G>C | p.G1128A | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29222584C>G | c.3383G>C | p.G1128A | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222584C>G | c.3383G>C | p.G1128A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK G1128A | gain of function | ALK Inhibitor |
EML4 - ALK ALK G1128A ALK R1192P |