RET E505_G506del - Gene Variant Detail

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Gene RET
Variant E505_G506del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions RET E505_G506del results in the deletion of 2 amino acids in the extracellular domain of the Ret protein from amino acids 505 to 506 (UniProt.org). E505_G506del confers a gain of function to the Ret protein as evidenced by increased Mapk pathway activation, phosphorylation of Ret, Akt, and Erk, and increased colony formation in culture (PMID: 26765577).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET E505_G506del

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Transcript NM_020975.6
gDNA chr10:g.43111456_43111461delGAGGGG
cDNA c.1513_1518delGAGGGG
Protein p.E505_G506delEG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406792.1 chr10:g.43124905_43124910delTGGAAG c.1513_1518delTGGAAG p.W505_K506delWK RefSeq GRCh38/hg38
NM_001406770.1 chr10:g.43113597_43113602delGGGATT c.1513_1518delGGGATT p.G505_I506delGI RefSeq GRCh38/hg38
NM_001406767.1 chr10:g.43113597_43113602delGGGATT c.1513_1518delGGGATT p.G505_I506delGI RefSeq GRCh38/hg38
NM_001355216.1 chr10:g.43116723_43116728delTGCTGA c.1514_1519delTGCTGA p.M505_L506delML RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406776.1 chr10:g.43116687_43116692delAAGGCA c.1514_1519delAAGGCA p.K505_G506delKG RefSeq GRCh38/hg38
NM_001406764.1 chr10:g.43112220_43112225delCAAAGG c.1515_1519+1delCAAAGG p.K506_G507delKG RefSeq GRCh38/hg38
NM_001406787.1 chr10:g.43119683_43119688delGGCGAC c.1513_1518delGGCGAC p.G505_D506delGD RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43119677_43119682delACCATG c.1513_1518delACCATG p.T505_M506delTM RefSeq GRCh38/hg38
NM_001406773.1 chr10:g.43114551_43114556delCTGCTG c.1513_1518delCTGCTG p.L505_L506delLL RefSeq GRCh38/hg38
NM_020630 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406788.1 chr10:g.43120171_43120176delTATGAA c.1513_1518delTATGAA p.Y505_E506delYE RefSeq GRCh38/hg38
NM_020975 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406781.1 chr10:g.43119548_43119553delGTGGAG c.1513_1518delGTGGAG p.V505_E506delVE RefSeq GRCh38/hg38
NM_001406778.1 chr10:g.43116687_43116692delAAGGCA c.1514_1519delAAGGCA p.K505_G506delKG RefSeq GRCh38/hg38
NM_001355216.2 chr10:g.43116723_43116728delTGCTGA c.1514_1519delTGCTGA p.M505_L506delML RefSeq GRCh38/hg38
NM_001406769.1 chr10:g.43114510_43114515delTGATCG c.1514_1519delTGATCG p.V505_I506delVI RefSeq GRCh38/hg38
NM_001406779.1 chr10:g.43119548_43119553delGTGGAG c.1513_1518delGTGGAG p.V505_E506delVE RefSeq GRCh38/hg38
NM_001406774.1 chr10:g.43114641_43114646delCAGGCC c.1516_1521delCAGGCC p.Q506_A507delQA RefSeq GRCh38/hg38
NM_001406780.1 chr10:g.43119548_43119553delGTGGAG c.1513_1518delGTGGAG p.V505_E506delVE RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43119677_43119682delACCATG c.1513_1518delACCATG p.T505_M506delTM RefSeq GRCh38/hg38
NM_001406791.1 chr10:g.43123687_43123692delCTGCTG c.1513_1518delCTGCTG p.L505_L506delLL RefSeq GRCh38/hg38
NM_001406789.1 chr10:g.43120171_43120176delTATGAA c.1513_1518delTATGAA p.Y505_E506delYE RefSeq GRCh38/hg38
NM_001406766.1 chr10:g.43113597_43113602delGGGATT c.1513_1518delGGGATT p.G505_I506delGI RefSeq GRCh38/hg38
NM_001406793.1 chr10:g.43124905_43124910delTGGAAG c.1513_1518delTGGAAG p.W505_K506delWK RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406768.1 chr10:g.43112220_43112225delCAAAGG c.1515_1519+1delCAAAGG p.K506_G507delKG RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406772.1 chr10:g.43114510_43114515delTGATCG c.1514_1519delTGATCG p.V505_I506delVI RefSeq GRCh38/hg38
NM_001406782.1 chr10:g.43119548_43119553delGTGGAG c.1513_1518delGTGGAG p.V505_E506delVE RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406784.1 chr10:g.43119644_43119649delAGCTCC c.1516_1521delAGCTCC p.S506_S507delSS RefSeq GRCh38/hg38
NM_001406777.1 chr10:g.43116687_43116692delAAGGCA c.1514_1519delAAGGCA p.K505_G506delKG RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406794.1 chr10:g.43124905_43124910delTGGAAG c.1513_1518delTGGAAG p.W505_K506delWK RefSeq GRCh38/hg38
NM_001406775.1 chr10:g.43116687_43116692delAAGGCA c.1514_1519delAAGGCA p.K505_G506delKG RefSeq GRCh38/hg38
NM_001406771.1 chr10:g.43114551_43114556delCTGCTG c.1513_1518delCTGCTG p.L505_L506delLL RefSeq GRCh38/hg38
NM_001406762.1 chr10:g.43112220_43112225delCAAAGG c.1515_1519+1delCAAAGG p.K506_G507delKG RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43111456_43111461delGAGGGG c.1513_1518delGAGGGG p.E505_G506delEG RefSeq GRCh38/hg38
NM_001406790.1 chr10:g.43120171_43120176delTATGAA c.1513_1518delTATGAA p.Y505_E506delYE RefSeq GRCh38/hg38
NM_001406785.1 chr10:g.43119669_43119674delGGGCCC c.1514_1519delGGGCCC p.R505_A506delRA RefSeq GRCh38/hg38
NM_001406761.1 chr10:g.43112220_43112225delCAAAGG c.1515_1519+1delCAAAGG p.K506_G507delKG 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries