Gene Variant Detail

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Gene RET
Variant R418*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions RET R418* results in a premature truncation of the Ret protein at amino acid 418 of 1114 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R418* is predicted to lead to a loss of Ret protein function.
Associated Drug Resistance
Category Variants Paths

RET mutant RET inact mut RET R418*

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Transcript NM_020975.6
gDNA chr10:g.43109219C>T
cDNA c.1252C>T
Protein p.R418*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630.7 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_001406790.1 chr10:g.43119575_43119576delCGinsTA c.1252_1253delCGinsTA p.R418* RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_020630 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_001406789.1 chr10:g.43119575_43119576delCGinsTA c.1252_1253delCGinsTA p.R418* RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_001406788.1 chr10:g.43119575_43119576delCGinsTA c.1252_1253delCGinsTA p.R418* RefSeq GRCh38/hg38
NM_020975 chr10:g.43109219C>T c.1252C>T p.R418* RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43109219C>T c.1252C>T p.R418* 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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