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Gene | RET |
Variant | R969Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET R969Q lies within the protein kinase domain of the Ret protein (UniProt.org). R969Q has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET R969Q |
Transcript | NM_020975.6 |
gDNA | chr10:g.43123775G>A |
cDNA | c.2906G>A |
Protein | p.R969Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.5 | chr10:g.43123775G>A | c.2906G>A | p.R969Q | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43123775G>A | c.2906G>A | p.R969Q | RefSeq | GRCh38/hg38 |
NM_001406764.1 | chr10:g.43124977_43124978delAGinsCA | c.2905_2906delAGinsCA | p.R969Q | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43123775G>A | c.2906G>A | p.R969Q | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43123775G>A | c.2906G>A | p.R969Q | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43123775G>A | c.2906G>A | p.R969Q | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43123775G>A | c.2906G>A | p.R969Q | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43123775G>A | c.2906G>A | p.R969Q | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43123775G>A | c.2906G>A | p.R969Q | RefSeq | GRCh38/hg38 |
NM_001406762.1 | chr10:g.43124977_43124978delAGinsCA | c.2905_2906delAGinsCA | p.R969Q | RefSeq | GRCh38/hg38 |
NM_001406761.1 | chr10:g.43124977_43124978delAGinsCA | c.2905_2906delAGinsCA | p.R969Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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