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Gene | RET |
Variant | C630del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C630del results in the deletion of an amino acid in the cysteine-rich region of the Ret protein at amino acid 630 (UniProt.org). C630del results in increased Ret phosphorylation, downstream signaling, viability, and colony formation in cultured cells (PMID: 35689816). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C630del |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114488_43114490delTGC |
cDNA | c.1888_1890delTGC |
Protein | p.C630delC |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406764.1 | chr10:g.43114617_43114619delGAG | c.1888_1890delGAG | p.E630delE | RefSeq | GRCh38/hg38 |
NM_001406777.1 | chr10:g.43120088_43120090delATC | c.1889_1891delATC | p.H630delH | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114488_43114490delTGC | c.1888_1890delTGC | p.C630delC | RefSeq | GRCh38/hg38 |
NM_001406772.1 | chr10:g.43116731_43118374del1644 | c.1888_1890del1644 | p.E630delE | RefSeq | GRCh38/hg38 |
NM_001406781.1 | chr10:g.43122002_43122004delCAC | c.1890_1892delCAC | p.T631delT | RefSeq | GRCh38/hg38 |
NM_001406775.1 | chr10:g.43120088_43120090delATC | c.1889_1891delATC | p.H630delH | RefSeq | GRCh38/hg38 |
NM_001406792.1 | chr10:g.43128261_43128263delGAT | c.1888_1890delGAT | p.D630delD | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114488_43114490delTGC | c.1888_1890delTGC | p.C630delC | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114488_43114490delTGC | c.1888_1890delTGC | p.C630del | RefSeq | GRCh38/hg38 |
NM_001406791.1 | chr10:g.43126728_43126730delATT | c.1888_1890delATT | p.I630delI | RefSeq | GRCh38/hg38 |
NM_001406778.1 | chr10:g.43120088_43120090delATC | c.1889_1891delATC | p.H630delH | RefSeq | GRCh38/hg38 |
NM_001406770.1 | chr10:g.43116623_43116625delCTT | c.1888_1890delCTT | p.L630delL | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43114623_43114625delACC | c.1888_1890delACC | p.T630delT | RefSeq | GRCh38/hg38 |
NM_001406780.1 | chr10:g.43122002_43122004delCAC | c.1890_1892delCAC | p.T631delT | RefSeq | GRCh38/hg38 |
NM_001406768.1 | chr10:g.43116599_43116601delGAA | c.1888_1890delGAA | p.E630delE | RefSeq | GRCh38/hg38 |
NM_001406766.1 | chr10:g.43116623_43116625delCTT | c.1888_1890delCTT | p.L630delL | RefSeq | GRCh38/hg38 |
NM_001406779.1 | chr10:g.43122002_43122004delCAC | c.1890_1892delCAC | p.T631delT | RefSeq | GRCh38/hg38 |
NM_001406774.1 | chr10:g.43119551_43119553delGAG | c.1888_1890delGAG | p.E630delE | RefSeq | GRCh38/hg38 |
NM_001406783.1 | chr10:g.43123783_43123785delAGG | c.1888_1890delAGG | p.R630delR | RefSeq | GRCh38/hg38 |
NM_001406782.1 | chr10:g.43122002_43122004delCAC | c.1890_1892delCAC | p.T631delT | RefSeq | GRCh38/hg38 |
NM_001355216.2 | chr10:g.43120124_43120126delAGG | c.1889_1891delAGG | p.E630delE | RefSeq | GRCh38/hg38 |
NM_001406787.1 | chr10:g.43123789_43123791delGAC | c.1888_1890delGAC | p.D630delD | RefSeq | GRCh38/hg38 |
NM_001406767.1 | chr10:g.43116623_43116625delCTT | c.1888_1890delCTT | p.L630delL | RefSeq | GRCh38/hg38 |
NM_001406773.1 | chr10:g.43118414_43118416delTTC | c.1888_1890delTTC | p.F630delF | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114488_43114490delTGC | c.1888_1890delTGC | p.C630del | RefSeq | GRCh38/hg38 |
NM_001406788.1 | chr10:g.43126608_43126610delGAC | c.1888_1890delGAC | p.D630delD | RefSeq | GRCh38/hg38 |
NM_001406786.1 | chr10:g.43123783_43123785delAGG | c.1888_1890delAGG | p.R630delR | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114488_43114490delTGC | c.1888_1890delTGC | p.C630delC | RefSeq | GRCh38/hg38 |
NM_001406771.1 | chr10:g.43118414_43118416delTTC | c.1888_1890delTTC | p.F630delF | RefSeq | GRCh38/hg38 |
NM_001406784.1 | chr10:g.43123747_43123749delCTC | c.1888_1890delCTC | p.L630delL | RefSeq | GRCh38/hg38 |
NM_001406769.1 | chr10:g.43116731_43118374del1644 | c.1888_1890del1644 | p.E630delE | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114488_43114490delTGC | c.1888_1890delTGC | p.C630delC | RefSeq | GRCh38/hg38 |
NM_001406776.1 | chr10:g.43120088_43120090delATC | c.1889_1891delATC | p.H630delH | RefSeq | GRCh38/hg38 |
NM_001406790.1 | chr10:g.43126608_43126610delGAC | c.1888_1890delGAC | p.D630delD | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114488_43114490delTGC | c.1888_1890delTGC | p.C630delC | RefSeq | GRCh38/hg38 |
NM_001406785.1 | chr10:g.43123774_43123776delCGG | c.1888_1890delCGG | p.R630delR | RefSeq | GRCh38/hg38 |
NM_001406762.1 | chr10:g.43114617_43114619delGAG | c.1888_1890delGAG | p.E630delE | RefSeq | GRCh38/hg38 |
NM_001406789.1 | chr10:g.43126608_43126610delGAC | c.1888_1890delGAC | p.D630delD | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114488_43114490delTGC | c.1888_1890delTGC | p.C630delC | RefSeq | GRCh38/hg38 |
NM_001406761.1 | chr10:g.43114617_43114619delGAG | c.1888_1890delGAG | p.E630delE | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43114623_43114625delACC | c.1888_1890delACC | p.T630delT | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET C630del | gain of function | RET Inhibitor |