RET E505_G506del - Gene Variant Detail

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Gene RET
Variant E505_G506del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions RET E505_G506del results in the deletion of 2 amino acids in the extracellular domain of the Ret protein from amino acids 505 to 506 (UniProt.org). E505_G506del confers a gain of function to the Ret protein as evidenced by increased Mapk pathway activation, phosphorylation of Ret, Akt, and Erk, and increased colony formation in culture (PMID: 26765577).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET E505_G506del

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Transcript NM_020975.6
gDNA chr10:g.43111456_43111461delGAGGGG
cDNA c.1513_1518delGAGGGG
Protein p.E505_G506delEG
Source Database RefSeq
Genome Build 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.