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Gene | RET |
Variant | R912P |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET R912P lies within the protein kinase domain of the Ret protein (UniProt.org). R912P results in activation of ligand-independent signaling as demonstrated by increased Mapk phosphorylation compared to wild-type Ret in culture (PMID: 29625052), and therefore, is predicted to lead to a gain of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET R912P |
Transcript | NM_020975.6 |
gDNA | chr10:g.43121950G>C |
cDNA | c.2735G>C |
Protein | p.R912P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630 | chr10:g.43121950G>C | c.2735G>C | p.R912P | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43121950G>C | c.2735G>C | p.R912P | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43121950G>C | c.2735G>C | p.R912P | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43121950G>C | c.2735G>C | p.R912P | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43121950G>C | c.2735G>C | p.R912P | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43121950G>C | c.2735G>C | p.R912P | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43121950G>C | c.2735G>C | p.R912P | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43121950G>C | c.2735G>C | p.R912P | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43121950G>C | c.2735G>C | p.R912P | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43121950G>C | c.2735G>C | p.R912P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET R912P | gain of function - predicted | RET Inhibitor |