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 C630F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C630F lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C630F confers a gain of function on the Ret protein as indicated by Ret dimerization and transformation of cultured cells (PMID: 9230192).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C630F

RET mutant RET C630X RET C630F

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.43114489G>T
cDNA c.1889G>T
Protein p.C630F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975 chr10:g.43114489G>T c.1889G>T p.C630F RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114489G>T c.1889G>T p.C630F RefSeq GRCh38/hg38
NM_020630 chr10:g.43114489G>T c.1889G>T p.C630F RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114489G>T c.1889G>T p.C630F RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114489G>T c.1889G>T p.C630F RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114489G>T c.1889G>T p.C630F RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114489G>T c.1889G>T p.C630F RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114489G>T c.1889G>T p.C630F RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114489G>T c.1889G>T p.C630F RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114489G>T c.1889G>T p.C630F 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 C630F gain of function RET Inhibitor