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Gene | RET |
Variant | E632_T636delinsSS |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | RET E632_T636delinsSS results in the deletion of five amino acids of the Ret protein from amino acids 632 to 636, combined with the insertion of two serines (S) at the same site (UniProt.org). E632_T636delinsSS results in increased transformation compared to wild-type in cell culture (PMID: 39095584), and therefore, is predicted to lead to gain of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET E632_T636delinsSS |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114494_43114508delinsAGCAGC |
cDNA | c.1894_1908delinsAGCAGC |
Protein | p.E632_T636delinsSS |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.6 | chr10:g.43114494_43114508delinsAGCAGC | c.1894_1908delinsAGCAGC | p.E632_T636delinsSS | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43114494_43114508delinsAGCAGC | c.1894_1908delinsAGCAGC | p.E632_T636delinsSS | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114494_43114508delinsAGCAGC | c.1894_1908delinsAGCAGC | p.E632_T636delinsSS | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114494_43114508delinsAGCAGC | c.1894_1908delinsAGCAGC | p.E632_T636delinsSS | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114494_43114508delinsAGCAGC | c.1894_1908delinsAGCAGC | p.E632_T636delinsSS | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43114494_43114508delinsAGCAGC | c.1894_1908delinsAGCAGC | p.E632_T636delinsSS | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114494_43114508delinsAGCAGC | c.1894_1908delinsAGCAGC | p.E632_T636delinsSS | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114494_43114508delinsAGCAGC | c.1894_1908delinsAGCAGC | p.E632_T636delinsSS | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114494_43114508delinsAGCAGC | c.1894_1908delinsAGCAGC | p.E632_T636delinsSS | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114494_43114508delinsAGCAGC | c.1894_1908delinsAGCAGC | p.E632_T636delinsSS | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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