Gene Variant Detail

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Gene VHL
Variant V155A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL V155A lies within the CCT complex-binding region of the Vhl protein (UniProt.org). V155A retains the ability to bind the Elongin BC complex and ubiquitinate Hif1a in in vitro assays (PMID: 26503325), however, is predicted to lead to a loss of Vhl protein function as demonstrated by increased ubiquitination by Ube2s leading to reduced Vhl protein stability and impaired ability to adequately regulate Hif protein expression and activity in in vitro assays and cell culture (PMID: 26503325).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL V155A

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Transcript NM_000551.4
gDNA chr3:g.10149787T>C
cDNA c.464T>C
Protein p.V155A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.10149787T>C c.464T>C p.V155A RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10149787T>C c.464T>C p.V155A RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10149787T>C c.464T>C p.V155A RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
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  • 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