Gene Variant Detail

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Gene RET
Variant E616Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET E616Q lies within the extracellular domain of the Ret protein (UniProt.org). E616Q results in increased Ret autophosphorylation and constitutive transcriptional activity in a serum response element-driven luciferase reporter assay in cell culture (PMID: 27704398).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET E616Q

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Transcript NM_020975.6
gDNA chr10:g.43113642G>C
cDNA c.1846G>C
Protein p.E616Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_020630 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_001406773.1 chr10:g.43116731G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_001406771.1 chr10:g.43116731G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43123741G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43113642G>C c.1846G>C p.E616Q RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43123741G>C c.1846G>C p.E616Q 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 E616Q gain of function RET Inhibitor