VHL A149T
Gene Variant Detail

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Gene VHL
Variant A149T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL A149T lies within the CCT complex-binding region of the Vhl protein (UniProt.org). A149T demonstrates HIFa regulation, cell cycle exit, and spheroid formation to similar levels of wild-type VHL in culture (PMID: 17526729), but also results in a HIF-dependent growth defect similar to VHL loss in a high-throughput cell culture assay (PMID: 38969834) and reduced binding to Hif1a and ubiquitination in in vitro assays (PMID: 11865071), and therefore, its effect on Vhl protein function is unknown.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL A149T

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Transcript NM_000551.4
gDNA chr3:g.10146618G>A
cDNA c.445G>A
Protein p.A149T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.10146618G>A c.445G>A p.A149T RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10146618G>A c.445G>A p.A149T RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146618G>A c.445G>A p.A149T RefSeq GRCh38/hg38

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