RET L633_A639del - Gene Variant Detail

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Gene RET
Variant L633_A639del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions RET L633_A639del results in the deletion of seven amino acids in the extracellular domain of the Ret protein from amino acids 633 to 639 (UniProt.org). E633_A639del has been identified in the scientific literature (PMID: 28209747), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

RET mutant RET L633_A639del

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Transcript NM_020975.6
gDNA chr10:g.43114497_43114517del21
cDNA c.1897_1917del21
Protein p.L633_A639del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406744.1 chr10:g.43114497_43114517del21 c.1897_1917del21 p.L633_A639del RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114497_43114517del21 c.1897_1917del21 p.L633_A639del RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114497_43114517del21 c.1897_1917del21 p.L633_A639del RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114497_43114517del21 c.1897_1917del21 p.L633_A639del RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114497_43114517del21 c.1897_1917del21 p.L633_A639del RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114497_43114517del21 c.1897_1917del21 p.L633_A639del 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET L633_A639del medullary thyroid carcinoma predicted - sensitive Vandetanib Case Reports/Case Series Actionable In a clinical case study, Caprelsa (vandetanib) treatment resulted in disease stabilization in a patient with metastatic medullary thyroid carcinoma harboring RET L633_A639del (PMID: 28209747). 28209747