Gene Variant Detail

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Gene RET
Variant D707N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RET D707N lies within a caspase-3 cleavage site of the Ret protein (PMID: 10921886). D707N confers a loss of function to the Ret protein as demonstrated by impaired caspase-induced cleavage and apoptosis (PMID: 10921886, PMID: 21357690), decreased GDNF-induced Erk phosphorylation, and reduced interaction with P120 and N-cadherin (PMID: 21357690).
Associated Drug Resistance
Category Variants Paths

RET mutant RET inact mut RET D707N

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Transcript NM_020975.6
gDNA chr10:g.43114719G>A
cDNA c.2119G>A
Protein p.D707N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406743.1 chr10:g.43114719G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114719G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114719G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_020975 chr10:g.43114719G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114719G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114719G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114719G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_020630 chr10:g.43114719G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_001406772.1 chr10:g.43119653G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_001406769.1 chr10:g.43119653G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114719G>A c.2119G>A p.D707N RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114719G>A c.2119G>A p.D707N RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References