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 | L633V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET L633V lies within the extracellular domain of the Ret protein (UniProt.org). L633V has been identified in the scientific literature (PMID: 30446652, PMID: 38378752), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET L633V |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114497C>G |
cDNA | c.1897C>G |
Protein | p.L633V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406776.1 | chr10:g.43120096T>G | c.1897T>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_001406778.1 | chr10:g.43120096T>G | c.1897T>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114497C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114497C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_001406777.1 | chr10:g.43120096T>G | c.1897T>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_001406775.1 | chr10:g.43120096T>G | c.1897T>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_001406773.1 | chr10:g.43118423C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_001406771.1 | chr10:g.43118423C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114497C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114497C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114497C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_001406784.1 | chr10:g.43123756C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114497C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114497C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114497C>G | c.1897C>G | p.L633V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|