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@jax.org

Gene RET
Variant C515S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C515S lies within the extracellular domain of the Ret protein (UniProt.org). C515S results in increased cell proliferation, Ret autophosphorylation in vitro and in vivo, and ligand-independent Ret homodimer formation (PMID: 18631007).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C515S

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.43112119T>A
cDNA c.1543T>A
Protein p.C515S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406743.1 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406767.1 chr10:g.43113627T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406766.1 chr10:g.43113627T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406762.1 chr10:g.43112876T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406768.1 chr10:g.43112876T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406770.1 chr10:g.43113627T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406764.1 chr10:g.43112876T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_020630 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43112119T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_001406761.1 chr10:g.43112876T>A c.1543T>A p.C515S RefSeq GRCh38/hg38
NM_020975 chr10:g.43112119T>A c.1543T>A p.C515S 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