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Gene | VHL |
Variant | S65T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL S65T does not lie within any known functional domains of the Vhl protein (UniProt.org). S65T has been identified in sequencing studies (PMID: 23606570), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL S65T |
Transcript | NM_000551.4 |
gDNA | chr3:g.10142040T>A |
cDNA | c.193T>A |
Protein | p.S65T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_198156.2 | chr3:g.10142040T>A | c.193T>A | p.S65T | RefSeq | GRCh38/hg38 |
NM_001354723.1 | chr3:g.10142040T>A | c.193T>A | p.S65T | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10142040T>A | c.193T>A | p.S65T | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10142040T>A | c.193T>A | p.S65T | RefSeq | GRCh38/hg38 |
NM_198156.3 | chr3:g.10142040T>A | c.193T>A | p.S65T | RefSeq | GRCh38/hg38 |
NM_001354723.2 | chr3:g.10142040T>A | c.193T>A | p.S65T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
VHL S65T | unknown |