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 | R972G |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RET R972G lies within the protein kinase domain of the Ret protein (UniProt.org). R972G results in decreased GDNF-dependent phosphorylation of Ret and downstream signaling molecules including Shc, PLCgamma, and Erk1/2 compared to wild-type Ret protein, and inhibits the activity of a concurrent activation mutation (C634R) in culture (PMID: 11438491). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET R972G |
Transcript | NM_020975.6 |
gDNA | chr10:g.43123783A>G |
cDNA | c.2914A>G |
Protein | p.R972G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.7 | chr10:g.43123783A>G | c.2914A>G | p.R972G | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43123783A>G | c.2914A>G | p.R972G | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43123783A>G | c.2914A>G | p.R972G | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43123783A>G | c.2914A>G | p.R972G | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43123783A>G | c.2914A>G | p.R972G | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43123783A>G | c.2914A>G | p.R972G | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43123783A>G | c.2914A>G | p.R972G | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43123783A>G | c.2914A>G | p.R972G | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43123783A>G | c.2914A>G | p.R972G | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43123783A>G | c.2914A>G | p.R972G | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|