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 V804L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET V804L lies within the protein kinase domain of the Ret protein (UniProt.org). V804L confers a gain of function on the Ret protein, as indicated by increased kinase activity, cell transformation (PMID: 9242375), and is considered a gatekeeper mutation due to lack of response to some inhibitors, including cabozantinib and vandetanib (PMID: 27712045).
Associated Drug Resistance Y
Category Variants Paths

RET mutant RET act mut RET V804L

RET mutant RET V804X RET V804L

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.43119548G>C
cDNA c.2410G>C
Protein p.V804L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406759.1 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020975 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020630 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43119548G>C c.2410G>C p.V804L 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries