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 L730I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RET L730I lies within the protein kinase domain of the Ret protein (UniProt.org). L730I has been demonstrated to confer drug resistance in the context of KIF5B-RET in culture (PMID: 29908090, PMID: 34099825), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance Y
Category Variants Paths

RET mutant RET L730I

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.43116635C>A
cDNA c.2188C>A
Protein p.L730I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406744.1 chr10:g.43116635C>A c.2188C>A p.L730I RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43116635C>A c.2188C>A p.L730I RefSeq GRCh38/hg38
NM_001406761.1 chr10:g.43118405_43118407delCTGinsATC c.2188_2190delCTGinsATC p.L730I RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43116635C>A c.2188C>A p.L730I RefSeq GRCh38/hg38
NM_020630 chr10:g.43116635C>A c.2188C>A p.L730I RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43116635C>A c.2188C>A p.L730I RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43116635C>A c.2188C>A p.L730I RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43116635C>A c.2188C>A p.L730I RefSeq GRCh38/hg38
NM_020975 chr10:g.43116635C>A c.2188C>A p.L730I RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43116635C>A c.2188C>A p.L730I RefSeq GRCh38/hg38
NM_001406764.1 chr10:g.43118405_43118407delCTGinsATC c.2188_2190delCTGinsATC p.L730I RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43116635C>A c.2188C>A p.L730I RefSeq GRCh38/hg38
NM_001406762.1 chr10:g.43118405_43118407delCTGinsATC c.2188_2190delCTGinsATC p.L730I 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