Gene Detail

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Gene Symbol VHL
Synonyms HRCA1 | pVHL | RCA1 | VHL1
Gene Description VHL, von Hippel-Lindau tumor suppressor, is part of an E3 ubiquitin protein ligase complex, which promotes degradation of HIF-alpha and other protein targets required for cellular growth and angiogenesis (PMID: 24583008, PMID: 30194449), and plays a role in genomic stability (PMID: 31747945). VHL contributes to von Hippel-Lindau disease (PMID: 30194449, PMID: 30006056) and sporadic tumors, including clear cell renal carcinoma (PMID: 24583008, PMID: 30149673).
ACMG Incidental List v3.0:
Yes, Von Hippel-Lindau syndrome (PMID: 34012068)

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Molecular Profile Protein Effect Treatment Approaches
VHL A149D unknown
VHL A149T unknown
VHL amp no effect
VHL C162F loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL C162R unknown
VHL C162W loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL C162Y unknown
VHL C77* loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL D121G loss of function - predicted
VHL D121Y unknown
VHL D126N loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL del loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL E173D unknown
VHL E186K unknown
VHL E52fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL E70* loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL F119L loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL F136L loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL F148fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL F148Lfs*11 loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL F76del loss of function
VHL F76S unknown
VHL F91L unknown
VHL G106V unknown
VHL G114C unknown
VHL G114R loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL G123W unknown
VHL G127V unknown
VHL G144A unknown
VHL G144E unknown
VHL G144fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL G29D unknown
VHL G39D unknown
VHL G93V unknown
VHL H110Q unknown
VHL H115N unknown
VHL H115Q loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL H115R unknown mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL H115Y unknown
VHL I151F unknown
VHL I151N unknown
VHL I151T unknown
VHL I180N unknown
VHL I180V unknown
VHL I206* loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL inact mut loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
TP53 R248W VHL inact mut
VHL K171G loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL L101P unknown
VHL L116fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL L128H unknown
VHL L153P unknown
VHL L158fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL L158P loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL L158Q loss of function - predicted
VHL L158S loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL L158V unknown
VHL L163F unknown
VHL L163P loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL L169P unknown
VHL L184fs loss of function - predicted
VHL L184P loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL L184R unknown
VHL L188P unknown
VHL L188R unknown
VHL L188V loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL L198* loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL L201P unknown
VHL L89H loss of function - predicted
VHL L89P unknown
VHL loss loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
PTEN loss VHL loss
VHL mutant unknown
VHL N131fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL N131Y unknown
VHL N78D unknown
VHL N78S loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL N78T unknown
VHL N78Y unknown
VHL N90I loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL N90Y unknown
VHL negative loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL over exp no effect
VHL P154L loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL P192S unknown
VHL P25L unknown
VHL P25S unknown
VHL P81S loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL P81T unknown
VHL P86H loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL P86L unknown
VHL P86R unknown
VHL P95Q unknown
VHL Q132fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL Q164R loss of function - predicted
VHL Q195* loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL Q73E unknown
VHL Q73H unknown
VHL Q96* loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL R107G unknown
VHL R107P unknown
VHL R108del unknown
VHL R161* loss of function - predicted
VHL R161fs loss of function - predicted
VHL R161G loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL R161P loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL R161Q unknown
VHL R167G unknown
VHL R167Q loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL R167W loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL R177fs loss of function - predicted
VHL R205C unknown
VHL R205H unknown
VHL R64P loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL R69C loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL R79G unknown
VHL R79P unknown
VHL R82P loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL S111N loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL S111R loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL S183L loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL S38F unknown
VHL S65* loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL S65L loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL S65W loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL S68* loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL S68fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL S68W loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL S80I unknown
VHL S80N unknown
VHL S80R unknown
VHL T100A unknown
VHL T202* loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL V130D unknown
VHL V130F unknown
VHL V155A loss of function - predicted
VHL V155fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL V155M unknown
VHL V165D unknown
VHL V62fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL V74D unknown
VHL V74G unknown
VHL W117C loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL W117R loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL W88* loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL W88C unknown
VHL W88L unknown
VHL W88R unknown
VHL wild-type no effect
VHL Y112H loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL Y112N loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL Y175* loss of function - predicted
VHL Y98C unknown
VHL Y98H loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor
VHL Y98N loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor