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Gene RET
Variant E511K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET E511K lies within the extracellular domain of the Ret protein (UniProt.org). E511K confers a gain of function to Ret as demonstrated by increased Ret and Erk phosphorylation and transformation in cultured cells (PMID: 20103606).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET E511K

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Transcript NM_020975.6
gDNA chr10:g.43112107G>A
cDNA c.1531G>A
Protein p.E511K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406743.1 chr10:g.43112107G>A c.1531G>A p.E511K RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43112107G>A c.1531G>A p.E511K RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43112107G>A c.1531G>A p.E511K RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43112107G>A c.1531G>A p.E511K RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43112107G>A c.1531G>A p.E511K RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43112107G>A c.1531G>A p.E511K RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43112107G>A c.1531G>A p.E511K RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43112107G>A c.1531G>A p.E511K RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43112107G>A c.1531G>A p.E511K RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43112107G>A c.1531G>A p.E511K 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 Protein Effect Treatment Approaches
RET E511K gain of function RET Inhibitor