RET C609W
Gene Variant Detail

Request Content

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@genomenon.com

Gene RET
Variant C609W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RET C609W lies within the extracellular domain of the Ret protein (UniProt.org). The functional effect of C609W is conflicting as it reduces cell surface Ret expression, results in a loss of response to GDNF-regulated apoptosis, but also induces Ret dimerization, leads to increased phosphorylation of Shc, and transformation of cultured cells (PMID: 9502784, PMID: 10921886), and therefore, its effect on Ret protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RET mutant RET C609X RET C609W

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.43113623C>G
cDNA c.1827C>G
Protein p.C609W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975.5 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_020975 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_020630 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43113623C>G c.1827C>G p.C609W RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43113623C>G c.1827C>G p.C609W 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 C609W medullary thyroid carcinoma sensitive Selpercatinib FDA approved - On Companion Diagnostic Actionable In a Phase I/II trial (LIBRETTO-001) that supported FDA approval, Retevmo (selpercatinib) treatment resulted in an objective response rate (ORR) of 69% (38/55, 5 complete and 33 partial responses) in previously treated adult and pediatric patients of 12 years and older with medullary thyroid cancer harboring RET mutations as detected by an approved test, including RET C609W; ORR was 73% (64/88) in treatment naive patients (PMID: 32846061; NCT03157128). 32846061 detail... detail...