Gene Variant Detail

Contact

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@jax.org

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 not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

RET mutant RET D378_G385delinsE

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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_020975.6 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_020975.5 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_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_001406744.1 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET D378_G385delinsE thyroid gland medullary carcinoma predicted - sensitive Selpercatinib Case Reports/Case Series Actionable In a clinical case study, a pediatric patient with heavily pretreated medullary thyroid cancer harboring RET D378_G385delinsE achieved a partial response after 8 weeks of Retevmo (selpercatinib) treatment, with an 86% reduction in tumor size after 40 weeks, and remained progression-free after 27 months (PMID: 32923911; NCT03157128). 32923911
RET D378_G385delinsE thyroid gland medullary carcinoma predicted - sensitive Vandetanib Case Reports/Case Series Actionable In a clinical case study, Caprelsa (vandetanib) treatment resulted in an ongoing biochemical response for more than 6 months in a pediatric patient 16 years old with metastatic medullary thyroid carcinoma harboring RET D378_G385delinsE (PMID: 28209747). 28209747