Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | RET |
Variant | R114H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET R114H lies within the extracellular domain of the Ret protein (UniProt.org). R114H has been identified in the scientific literature (PMID: 33827484, PMID: 34670378), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET R114H |
Transcript | NM_020975.6 |
gDNA | chr10:g.43102345G>A |
cDNA | c.341G>A |
Protein | p.R114H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406781.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406769.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406772.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406787.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406785.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001355216.2 | chr10:g.43109070G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406771.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406782.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001355216.1 | chr10:g.43109070G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406780.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406773.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406779.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43102345G>A | c.341G>A | p.R114H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|