Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | RET |
Variant | D378_G385delinsE |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | RET D378_G385delinsE results in a deletion of eight amino acids within the extracellular domain of the Ret protein from amino acid 378 to 385, combined with the insertion of a glutamic acid (E) at the same location (UniProt.org). D378_G385delinsE has been identified in the scientific literature (PMID: 32923911), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET D378_G385delinsE |
Transcript | NM_020975.6 |
gDNA | chr10:g.43109101_43109121del21 |
cDNA | c.1134_1154del21 |
Protein | p.D378_G385delinsE |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406760.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET D378_G385delinsE | unknown |