Gene Variant Detail

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Gene RET
Variant C630Y
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions RET C630Y lies within the extracellular domain of the Ret protein (UniProt.org). C630Y is transforming in culture in one study (PMID: 10049754) and therefore, is predicted to lead to a gain of Ret protein function.
Associated Drug Resistance

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Transcript NM_020975
gDNA chr10:g.43114489G>A
cDNA c.1889G>A
Protein p.C630Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38
NM_020630 chr10:g.43114489G>A c.1889G>A p.C630Y 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 C630Y gain of function - predicted RET Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References