Gene Variant Detail

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Gene RET
Variant G691S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET G691S lies within the cytoplasmic domain of the Ret protein (UniProt.org). G691S results in increased Ret phosphorylation and activation of downstream signaling pathways in response to Gdnf, and increased invasion in cultured cells (PMID: 16357163, PMID: 19561646).
Associated Drug Resistance

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Transcript NM_020975
gDNA chr10:g.43114671G>A
cDNA c.2071G>A
Protein p.G691S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38
NM_020975 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Protein Effect Treatment Approaches
RET G691S gain of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET G691S Advanced Solid Tumor sensitive Dovitinib Phase I Actionable In a Phase I clinical trial, two patients with germline RET G691S mutations demonstrated sensitivity to Dovitinib (TKI258) treatment (PMID: 25103625). 25103625