Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene RET
Variant Y806C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions RET Y806C lies within the protein kinase domain of the Ret protein (UniProt.org). Y806C is predicted to lead to a gain of Ret protein function as indicated by transformation of cultured cells (PMID: 10679286), and has also been demonstrated to occur as a secondary resistance mutation in conjunction with other RET mutations (PMID: 19029224).
Associated Drug Resistance Y
Category Variants Paths

RET mutant RET act mut RET Y806C

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.

Transcript NM_020975.6
gDNA chr10:g.43119555A>G
cDNA c.2417A>G
Protein p.Y806C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406771.1 chr10:g.43123724A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020975 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406773.1 chr10:g.43123724A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406774.1 chr10:g.43124885A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43119555A>G c.2417A>G p.Y806C 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET Y806C Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited phosphorylation of Ret in transformed human cells expressing RET Y806C in culture (PMID: 23526464). 23526464