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Gene | RET |
Variant | C634R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C634R lies within the extracellular domain of the Ret protein (UniProt.org). C634R results in autophosphorylation of Ret, and is transforming in cultured cells (PMID: 9242375, PMID: 10679286). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C634R RET mutant RET C634X RET C634R |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114500T>C |
cDNA | c.1900T>C |
Protein | p.C634R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406744.1 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_001406786.1 | chr10:g.43123795T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_001406783.1 | chr10:g.43123795T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET C634R RET V804G | Advanced Solid Tumor | sensitive | Vandetanib | Preclinical | Actionable | In a preclinical study, transformed cell lines expressing Ret protein carrying both C634R and V804G mutations were more sensitive to Vandetanib induced inhibition of Ret activity than cells expressing Ret C634R alone in culture (PMID: 15184865). | 15184865 |
RET C634R RET V804M | Advanced Solid Tumor | resistant | Vandetanib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed human cells co-expressing RET C634R and RET V804M were resistant to treatment with Caprelsa (vandetanib) in culture (PMID: 19029224). | 19029224 |
RET C634R RET Y806C | Advanced Solid Tumor | resistant | Vandetanib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed human cells co-expressing RET C634R and RET Y806C were resistant to treatment with Caprelsa (vandetanib) in culture (PMID: 19029224). | 19029224 |
RET C634R RET Y806E | Advanced Solid Tumor | resistant | Vandetanib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed human cells co-expressing RET C634R and RET Y806E were resistant to treatment with Caprelsa (vandetanib) in culture (PMID: 19029224). | 19029224 |
RET C634R RET Y806F | Advanced Solid Tumor | predicted - sensitive | Vandetanib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed human cells co-expressing RET C634R and RET Y806F in culture demonstrated inhibition of Ret phosphorylation and activity in kinase assays when treated with Caprelsa (vandetanib) (PMID: 19029224). | 19029224 |