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Gene | RET |
Variant | V648I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET V648I lies within the transmembrane domain of the Ret protein (UniProt.org). V648I results in increased cell proliferation, but is not transforming in cell culture (PMID: 21810974), and therefore, its effect on Ret protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET V648I |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114542G>A |
cDNA | c.1942G>A |
Protein | p.V648I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406743.1 | chr10:g.43114542G>A | c.1942G>A | p.V648I | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114542G>A | c.1942G>A | p.V648I | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114542G>A | c.1942G>A | p.V648I | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114542G>A | c.1942G>A | p.V648I | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114542G>A | c.1942G>A | p.V648I | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114542G>A | c.1942G>A | p.V648I | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43114542G>A | c.1942G>A | p.V648I | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114542G>A | c.1942G>A | p.V648I | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114542G>A | c.1942G>A | p.V648I | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43114542G>A | c.1942G>A | p.V648I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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