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Gene | RET |
Variant | V485L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET V485L lies within the extracellular domain of the Ret protein (UniProt.org). V485L has been identified in sequencing studies (PMID: 34741450), 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 V485L |
Transcript | NM_020975.6 |
gDNA | chr10:g.43111396G>C |
cDNA | c.1453G>C |
Protein | p.V485L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.5 | chr10:g.43111396G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43111396G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43111396G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43111396G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43111396G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
NM_001355216.2 | chr10:g.43116662G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43111396G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43111396G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43111396G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43111396G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43111396G>C | c.1453G>C | p.V485L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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