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 C630del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions RET C630del results in the deletion of an amino acid in the cysteine-rich region of the Ret protein at amino acid 630 (UniProt.org). C630del results in increased Ret phosphorylation, downstream signaling, viability, and colony formation in cultured cells (PMID: 35689816).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C630del

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.43114488_43114490delTGC
cDNA c.1888_1890delTGC
Protein p.C630delC
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630.5 chr10:g.43114488_43114490delTGC c.1888_1890delTGC p.C630del RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43114623_43114625delACC c.1888_1890delACC p.T630delT RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43123783_43123785delAGG c.1888_1890delAGG p.R630delR RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114488_43114490delTGC c.1888_1890delTGC p.C630delC RefSeq GRCh38/hg38
NM_001406781.1 chr10:g.43122002_43122004delCAC c.1890_1892delCAC p.T631delT RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114488_43114490delTGC c.1888_1890delTGC p.C630delC RefSeq GRCh38/hg38
NM_001406771.1 chr10:g.43118414_43118416delTTC c.1888_1890delTTC p.F630delF RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114488_43114490delTGC c.1888_1890delTGC p.C630delC RefSeq GRCh38/hg38
NM_001406778.1 chr10:g.43120088_43120090delATC c.1889_1891delATC p.H630delH RefSeq GRCh38/hg38
NM_001406761.1 chr10:g.43114617_43114619delGAG c.1888_1890delGAG p.E630delE RefSeq GRCh38/hg38
NM_001406780.1 chr10:g.43122002_43122004delCAC c.1890_1892delCAC p.T631delT RefSeq GRCh38/hg38
NM_001406784.1 chr10:g.43123747_43123749delCTC c.1888_1890delCTC p.L630delL RefSeq GRCh38/hg38
NM_001406764.1 chr10:g.43114617_43114619delGAG c.1888_1890delGAG p.E630delE RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43114623_43114625delACC c.1888_1890delACC p.T630delT RefSeq GRCh38/hg38
NM_001406775.1 chr10:g.43120088_43120090delATC c.1889_1891delATC p.H630delH RefSeq GRCh38/hg38
NM_001406766.1 chr10:g.43116623_43116625delCTT c.1888_1890delCTT p.L630delL RefSeq GRCh38/hg38
NM_001406792.1 chr10:g.43128261_43128263delGAT c.1888_1890delGAT p.D630delD RefSeq GRCh38/hg38
NM_001406762.1 chr10:g.43114617_43114619delGAG c.1888_1890delGAG p.E630delE RefSeq GRCh38/hg38
NM_001406782.1 chr10:g.43122002_43122004delCAC c.1890_1892delCAC p.T631delT RefSeq GRCh38/hg38
NM_001406776.1 chr10:g.43120088_43120090delATC c.1889_1891delATC p.H630delH RefSeq GRCh38/hg38
NM_001406791.1 chr10:g.43126728_43126730delATT c.1888_1890delATT p.I630delI RefSeq GRCh38/hg38
NM_001406788.1 chr10:g.43126608_43126610delGAC c.1888_1890delGAC p.D630delD RefSeq GRCh38/hg38
NM_001406790.1 chr10:g.43126608_43126610delGAC c.1888_1890delGAC p.D630delD RefSeq GRCh38/hg38
NM_001406789.1 chr10:g.43126608_43126610delGAC c.1888_1890delGAC p.D630delD RefSeq GRCh38/hg38
NM_001406768.1 chr10:g.43116599_43116601delGAA c.1888_1890delGAA p.E630delE RefSeq GRCh38/hg38
NM_001406773.1 chr10:g.43118414_43118416delTTC c.1888_1890delTTC p.F630delF RefSeq GRCh38/hg38
NM_001406785.1 chr10:g.43123774_43123776delCGG c.1888_1890delCGG p.R630delR RefSeq GRCh38/hg38
NM_001406787.1 chr10:g.43123789_43123791delGAC c.1888_1890delGAC p.D630delD RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114488_43114490delTGC c.1888_1890delTGC p.C630delC RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114488_43114490delTGC c.1888_1890delTGC p.C630delC RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114488_43114490delTGC c.1888_1890delTGC p.C630delC RefSeq GRCh38/hg38
NM_001406774.1 chr10:g.43119551_43119553delGAG c.1888_1890delGAG p.E630delE RefSeq GRCh38/hg38
NM_001406767.1 chr10:g.43116623_43116625delCTT c.1888_1890delCTT p.L630delL RefSeq GRCh38/hg38
NM_001406779.1 chr10:g.43122002_43122004delCAC c.1890_1892delCAC p.T631delT RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114488_43114490delTGC c.1888_1890delTGC p.C630del RefSeq GRCh38/hg38
NM_001406770.1 chr10:g.43116623_43116625delCTT c.1888_1890delCTT p.L630delL RefSeq GRCh38/hg38
NM_001406777.1 chr10:g.43120088_43120090delATC c.1889_1891delATC p.H630delH RefSeq GRCh38/hg38
NM_001406772.1 chr10:g.43116731_43118374del1644 c.1888_1890del1644 p.E630delE RefSeq GRCh38/hg38
NM_001355216.2 chr10:g.43120124_43120126delAGG c.1889_1891delAGG p.E630delE RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43123783_43123785delAGG c.1888_1890delAGG p.R630delR RefSeq GRCh38/hg38
NM_001406769.1 chr10:g.43116731_43118374del1644 c.1888_1890del1644 p.E630delE 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 C630del Advanced Solid Tumor sensitive Pralsetinib Preclinical - Cell culture Actionable In a preclinical study, Gavreto (pralsetinib) treatment inhibited Ret phosphorylation and downstream signaling and resulted in decreased cell viability and colony formation in cells expressing RET C630del in culture (PMID: 35689816). 35689816