Gene Variant Detail

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Gene RET
Variant L633_C634dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions RET L633_C634dup (also referred to as L633_C634insCRT) indicates the insertion of 3 duplicate amino acids, leucine (L)-633 through cystine(C)-634, in the extracellular domain of the Ret protein (UniProt.org). L633_C634dup 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 L633_C634dup

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Transcript NM_020975.6
gDNA chr10:g.43114497_43114502
cDNA c.1897_1902
Protein p.L633_C634
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406760.1 chr10:g.43114497_43114502 c.1897_1902 p.L633_C634 RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114497_43114502 c.1897_1902 p.L633_C634 RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114497_43114502 c.1897_1902 p.L633_C634 RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114497_43114502 c.1897_1902 p.L633_C634 RefSeq GRCh38/hg38
NM_020630 chr10:g.43114501_43114502insTAGGACATG c.1901_1902insTAGGACATG p.C634_T636dupCRT RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114497_43114502 c.1897_1902 p.L633_C634 RefSeq GRCh38/hg38
NM_020975 chr10:g.43114501_43114502insTAGGACATG c.1901_1902insTAGGACATG p.C634_T636dupCRT RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114497_43114502 c.1897_1902 p.L633_C634 RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114497_43114502 c.1897_1902 p.L633_C634 RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114497_43114502 c.1897_1902 p.L633_C634 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries