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Gene | ALK |
Variant | G1202R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK G1202R lies within the protein kinase domain of the Alk protein (UniProt.org). G1202R demonstrates increased colony formation, decreased Cdh1 expression, increased migration and invasion, increased expression of metastatic factors Cdh2, Vim, Mmp2, Mmp9, and Slug in cell culture in the context of EML4-ALK (PMID: 35085771), and drug resistance in the context of ALK fusions (PMID: 22277784, PMID: 24736079, PMID: 35085771), but has not been individually characterized and therefore, its effect on Alk protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK G1202X ALK G1202R |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220747C>T |
cDNA | c.3604G>A |
Protein | p.G1202R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29220747C>T | c.3604G>A | p.G1202R | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29220747C>T | c.3604G>A | p.G1202R | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220747C>T | c.3604G>A | p.G1202R | RefSeq | GRCh38/hg38 |