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Gene RET
Variant R231H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RET R231H lies within the Cadherin domain of the Ret protein (UniProt.org). R231H results in a loss of response to GDNF-regulated apoptosis (PMID: 10921886), and inhibits the expression and function of a concurrent activating RET mutation (C634R) in culture (PMID: 9502784), and therefore, is predicted to lead to a loss of Ret protein function.
Associated Drug Resistance
Category Variants Paths

RET mutant RET inact mut RET R231H

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Transcript NM_020975.6
gDNA chr10:g.43105018G>A
cDNA c.692G>A
Protein p.R231H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406760.1 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_020975 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_001406769.1 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_020630 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_001406772.1 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43105018G>A c.692G>A p.R231H RefSeq GRCh38/hg38

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