Gene Variant Detail

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Gene RET
Variant C634_R635insHELC
Impact List insertion
Protein Effect gain of function
Gene Variant Descriptions RET C634_R635insHELC results in the insertion of four amino acids in the extracellular domain of the Ret protein between amino acids 634 and 635 (UniProt.org). C634_R635insHELC results in ligand independent dimerization and constitutive activation of Ret in culture (PMID: 10918602).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C634_R635insHELC

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Transcript NM_020975.6
gDNA chr10:g.43114503_43114504insATGAGCTTTGTC
cDNA c.1903_1904insATGAGCTTTGTC
Protein p.C634_R635insHELC
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630.5 chr10:g.43114503_43114504insATGAGCTTTGTC c.1903_1904insATGAGCTTTGTC p.C634_R635insHELC RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114503_43114504insATGAGCTTTGTC c.1903_1904insATGAGCTTTGTC p.C634_R635insHELC RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114503_43114504insATGAGCTTTGTC c.1903_1904insATGAGCTTTGTC p.C634_R635insHELC RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114503_43114504insATGAGCTTTGTC c.1903_1904insATGAGCTTTGTC p.C634_R635insHELC RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114503_43114504insATGAGCTTTGTC c.1903_1904insATGAGCTTTGTC p.C634_R635insHELC RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114503_43114504insATGAGCTTTGTC c.1903_1904insATGAGCTTTGTC p.C634_R635insHELC RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114503_43114504insATGAGCTTTGTC c.1903_1904insATGAGCTTTGTC p.C634_R635insHELC RefSeq GRCh38/hg38
NM_020975 chr10:g.43114503_43114504insATGAGCTTTGTC c.1903_1904insATGAGCTTTGTC p.C634_R635insHELC RefSeq GRCh38/hg38
NM_020630 chr10:g.43114503_43114504insATGAGCTTTGTC c.1903_1904insATGAGCTTTGTC p.C634_R635insHELC RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114503_43114504insATGAGCTTTGTC c.1903_1904insATGAGCTTTGTC p.C634_R635insHELC RefSeq GRCh38/hg38

Filtering

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  • 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

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries