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Gene | RET |
Variant | L629_D631delinsH |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | RET L629_D631delinsH results in a deletion of three amino acids in the extracellular domain of the Ret protein from amino acids 629 to 631, combined with the insertion of one histidine (H) at the same site (UniProt.org). L629_D631delinsH has been identified in the scientific literature (PMID: 35616103, PMID: 31605946), 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 L629_D631delinsH |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114486_43114491delTGTGCG |
cDNA | c.1886_1891delTGTGCG |
Protein | p.L629_D631delinsH |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406760.1 | chr10:g.43114486_43114491delTGTGCG | c.1886_1891delTGTGCG | p.L629_D631delinsH | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114486_43114491delTGTGCG | c.1886_1891delTGTGCG | p.L629_D631delinsH | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114486_43114491delTGTGCG | c.1886_1891delTGTGCG | p.L629_D631delinsH | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114486_43114491delTGTGCG | c.1886_1891delTGTGCG | p.L629_D631delinsH | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114486_43114491delTGTGCG | c.1886_1891delTGTGCG | p.L629_D631delinsH | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114486_43114491delTGTGCG | c.1886_1891delTGTGCG | p.L629_D631delinsH | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114486_43114491delTGTGCG | c.1886_1891delTGTGCG | p.L629_D631delinsH | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114486_43114491delTGTGCG | c.1886_1891delTGTGCG | p.L629_D631delinsH | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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