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Gene VHL
Variant S38F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL S38F lies within the pentameric repeat region of the Vhl protein (UniProt.org). S38F has been identified in sequencing studies (PMID: 15932632), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL S38F

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Transcript NM_000551.4
gDNA chr3:g.10141960C>T
cDNA c.113C>T
Protein p.S38F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354723.2 chr3:g.10141960C>T c.113C>T p.S38F RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10141960C>T c.113C>T p.S38F RefSeq GRCh38/hg38
NM_000551 chr3:g.10141960C>T c.113C>T p.S38F RefSeq GRCh38/hg38
NM_198156 chr3:g.10141960C>T c.113C>T p.S38F RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10141960C>T c.113C>T p.S38F RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10141960C>T c.113C>T p.S38F RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10141960C>T c.113C>T p.S38F RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10141960C>T c.113C>T p.S38F RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References