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Gene | VHL |
Variant | N78D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | VHL N78D does not lie within any known functional domains of the Vhl protein (UniProt.org). N78D results in a HIF-dependent growth defect similar to VHL loss in a high-throughput cell culture assay (PMID: 38969834), and therefore, is predicted to lead to a loss of Vhl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL inact mut VHL N78D |
Transcript | NM_000551.4 |
gDNA | chr3:g.10142079A>G |
cDNA | c.232A>G |
Protein | p.N78D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551.4 | chr3:g.10142079A>G | c.232A>G | p.N78D | RefSeq | GRCh38/hg38 |
NM_198156 | chr3:g.10142079A>G | c.232A>G | p.N78D | RefSeq | GRCh38/hg38 |
NM_000551 | chr3:g.10142079A>G | c.232A>G | p.N78D | RefSeq | GRCh38/hg38 |
NM_198156.3 | chr3:g.10142079A>G | c.232A>G | p.N78D | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10142079A>G | c.232A>G | p.N78D | RefSeq | GRCh38/hg38 |
NM_001354723.1 | chr3:g.10142079A>G | c.232A>G | p.N78D | RefSeq | GRCh38/hg38 |
NM_198156.2 | chr3:g.10142079A>G | c.232A>G | p.N78D | RefSeq | GRCh38/hg38 |
NM_001354723.2 | chr3:g.10142079A>G | c.232A>G | p.N78D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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