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 | E734K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RET E734K lies within the protein kinase domain of the Ret protein (UniProt.org). E734K results in a loss of phosphorylation of Ret and downstream signaling molecules including Erk1/2 and Stat3, decreased migration, colony formation, and response to GDNF-regulated apoptosis compared to wild-type Ret protein in culture (PMID: 22837065). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET E734K |
Transcript | NM_020975.6 |
gDNA | chr10:g.43116647G>A |
cDNA | c.2200G>A |
Protein | p.E734K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406759.1 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET E734K | loss of function |