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Gene | RET |
Variant | C630Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C630Y lies within the extracellular domain of the Ret protein (UniProt.org). C630Y results in increased phosphorylation of Ret, Akt, and Pi3k, increased colony formation and migration (PMID: 34905813), and is transforming in culture (PMID: 10049754). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C630Y RET mutant RET C630X RET C630Y |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114489G>A |
cDNA | c.1889G>A |
Protein | p.C630Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406760.1 | chr10:g.43114489G>A | c.1889G>A | p.C630Y | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43114489G>A | c.1889G>A | p.C630Y | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114489G>A | c.1889G>A | p.C630Y | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43114489G>A | c.1889G>A | p.C630Y | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114489G>A | c.1889G>A | p.C630Y | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114489G>A | c.1889G>A | p.C630Y | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114489G>A | c.1889G>A | p.C630Y | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114489G>A | c.1889G>A | p.C630Y | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114489G>A | c.1889G>A | p.C630Y | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114489G>A | c.1889G>A | p.C630Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET C630Y | gain of function | RET Inhibitor |