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Gene | RET |
Variant | E632_A639delinsHR |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | RET E632_A639delinsHR results in a deletion of eight amino acids in the extracellular domain of the Ret protein from amino acids 632 to 639, combined with the insertion of a histidine (H) and an arginine (R) at the same site (UniProt.org). E632_A639delinsHR has been identified in the scientific literature (PMID: 35616103), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET E632_A639delinsHR |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114494_43114517delinsCATAGG |
cDNA | c.1894_1917delinsCATAGG |
Protein | p.E632_A639delinsHR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.5 | chr10:g.43114494_43114517delinsCATAGG | c.1894_1917delinsCATAGG | p.E632_A639delinsHR | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114494_43114517delinsCATAGG | c.1894_1917delinsCATAGG | p.E632_A639delinsHR | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114494_43114517delinsCATAGG | c.1894_1917delinsCATAGG | p.E632_A639delinsHR | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114494_43114517delinsCATAGG | c.1894_1917delinsCATAGG | p.E632_A639delinsHR | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114494_43114517delinsCATAGG | c.1894_1917delinsCATAGG | p.E632_A639delinsHR | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114494_43114517delinsCATAGG | c.1894_1917delinsCATAGG | p.E632_A639delinsHR | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114494_43114517delinsCATAGG | c.1894_1917delinsCATAGG | p.E632_A639delinsHR | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114494_43114517delinsCATAGG | c.1894_1917delinsCATAGG | p.E632_A639delinsHR | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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