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Gene | RET |
Variant | F893L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RET F893L lies within the protein kinase domain of the Ret protein (UniProt.org). F893L results in a loss of ligand-dependent phosphorylation of Ret and downstream signaling molecules including Erk, Akt, and PLCgamma, is not transforming in culture, and abolishes the activity of a concurrent activating IDH1 mutation (C634R) in culture (PMID: 11438491, PMID: 22837065). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET F893L |
Transcript | NM_020975.6 |
gDNA | chr10:g.43120150T>C |
cDNA | c.2677T>C |
Protein | p.F893L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975 | chr10:g.43120150T>C | c.2677T>C | p.F893L | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43120150T>C | c.2677T>C | p.F893L | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43120150T>C | c.2677T>C | p.F893L | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43120150T>C | c.2677T>C | p.F893L | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43120150T>C | c.2677T>C | p.F893L | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43120150T>C | c.2677T>C | p.F893L | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43120150T>C | c.2677T>C | p.F893L | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43120150T>C | c.2677T>C | p.F893L | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43120150T>C | c.2677T>C | p.F893L | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43120150T>C | c.2677T>C | p.F893L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET F893L | loss of function |