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Protein

von Hippel-Lindau disease tumor suppressor

Gene

VHL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2.3 Publications

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • transcription factor binding Source: UniProtKB
  • ubiquitin protein ligase activity Source: ParkinsonsUK-UCL
  • ubiquitin-protein transferase activity Source: Reactome

GO - Biological processi

Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-1234176 Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
R-HSA-3232142 SUMOylation of ubiquitinylation proteins
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SIGNORiP40337
UniPathwayi
UPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
von Hippel-Lindau disease tumor suppressor
Alternative name(s):
Protein G7
pVHL
Gene namesi
Name:VHL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000134086.7
HGNCiHGNC:12687 VHL
MIMi608537 gene
neXtProtiNX_P40337

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Pheochromocytoma (PCC)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
See also OMIM:171300
von Hippel-Lindau disease (VHLD)18 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionVHLD is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst).
See also OMIM:193300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00567038S → P in VHLD; type II. 1 Publication1
Natural variantiVAR_00567152E → K in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs373068386EnsemblClinVar.1
Natural variantiVAR_00567265S → L in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs5030826EnsemblClinVar.1
Natural variantiVAR_00567365S → W in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs5030826EnsemblClinVar.1
Natural variantiVAR_00567466 – 73Missing in VHLD; type I. 8
Natural variantiVAR_00567670E → K in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030802EnsemblClinVar.1
Natural variantiVAR_00567774V → G in VHLD; type I-II. 1 PublicationCorresponds to variant dbSNP:rs5030803Ensembl.1
Natural variantiVAR_03499075Missing in VHLD. 1 Publication1
Natural variantiVAR_00567976F → I in VHLD; type I. 1 Publication1
Natural variantiVAR_00568076F → L in VHLD; type I. 1 Publication1
Natural variantiVAR_00568176F → S in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs730882033Ensembl.1
Natural variantiVAR_00567876Missing in VHLD; type I; common mutation. 1 Publication1
Natural variantiVAR_00568278N → H in VHLD; type I. 1 Publication1
Natural variantiVAR_00568378N → S in VHLD; type I; common mutation. 1 PublicationCorresponds to variant dbSNP:rs5030804EnsemblClinVar.1
Natural variantiVAR_00568478N → T in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030804EnsemblClinVar.1
Natural variantiVAR_00568579R → P in VHLD. 1
Natural variantiVAR_00568680S → I in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030805Ensembl.1
Natural variantiVAR_00568780S → R in VHLD; type I. 2 Publications1
Natural variantiVAR_00568981P → S in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs104893829EnsemblClinVar.1
Natural variantiVAR_00569182 – 84Missing in VHLD. 3
Natural variantiVAR_00569082R → P in VHLD; type I. Corresponds to variant dbSNP:rs794726890EnsemblClinVar.1
Natural variantiVAR_00569284V → L in VHLD; type II and type 2C. 2 PublicationsCorresponds to variant dbSNP:rs5030827EnsemblClinVar.1
Natural variantiVAR_00569386P → A in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs398123481EnsemblClinVar.1
Natural variantiVAR_00809786P → H in VHLD. 1
Natural variantiVAR_00569486P → L in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs730882034EnsemblClinVar.1
Natural variantiVAR_00569586P → R in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs730882034EnsemblClinVar.1
Natural variantiVAR_00569686P → S in VHLD. 2 PublicationsCorresponds to variant dbSNP:rs398123481EnsemblClinVar.1
Natural variantiVAR_00569788W → R in VHLD; type I. 2 Publications1
Natural variantiVAR_00569888W → S in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs119103277EnsemblClinVar.1
Natural variantiVAR_00570089L → P in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030807EnsemblClinVar.1
Natural variantiVAR_00570292 – 97Missing in VHLD; type I. 6
Natural variantiVAR_00570493G → D in VHLD. 1
Natural variantiVAR_00570696Q → P in VHLD; type I. 1 Publication1
Natural variantiVAR_005708101L → G in VHLD; type I; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_005709101L → R in VHLD; type I. 1 Publication1
Natural variantiVAR_005711105T → P in VHLD; type I. 1 Publication1
Natural variantiVAR_005713107R → P in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs193922609EnsemblClinVar.1
Natural variantiVAR_005714111S → C in VHLD; type II. 1
Natural variantiVAR_005715111S → N in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs869025631EnsemblClinVar.1
Natural variantiVAR_005716111S → R in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs765978945EnsemblClinVar.1
Natural variantiVAR_005717112Y → H in VHLD; type IIA. Corresponds to variant dbSNP:rs104893824EnsemblClinVar.1
Natural variantiVAR_034992112Y → N in VHLD. 1 PublicationCorresponds to variant dbSNP:rs104893824EnsemblClinVar.1
Natural variantiVAR_005718114G → C in VHLD; type II. 1 Publication1
Natural variantiVAR_005719114G → R in VHLD; type I-II. Corresponds to variant dbSNP:rs869025636EnsemblClinVar.1
Natural variantiVAR_005720114G → S in VHLD; type II. 1 Publication1
Natural variantiVAR_005723115H → Q in VHLD; type II. 1 Publication1
Natural variantiVAR_008098115H → R in VHLD; type II. Corresponds to variant dbSNP:rs5030812Ensembl.1
Natural variantiVAR_005722115H → Y in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030811Ensembl.1
Natural variantiVAR_005724116L → V in VHLD. 1 Publication1
Natural variantiVAR_005725117W → C in VHLD; type I. 3 PublicationsCorresponds to variant dbSNP:rs727504215EnsemblClinVar.1
Natural variantiVAR_005726118L → P in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs5030830EnsemblClinVar.1
Natural variantiVAR_005727118L → R in VHLD. 1 Publication1
Natural variantiVAR_005729119F → S in VHLD; type II. 1 Publication1
Natural variantiVAR_005730121D → G in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030832EnsemblClinVar.1
Natural variantiVAR_005731128L → F in VHLD; type II. 1
Natural variantiVAR_005732129L → LE in VHLD. 1
Natural variantiVAR_005734131N → K in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs1064794272Ensembl.1
Natural variantiVAR_005735131N → T in VHLD; type I. 1 Publication1
Natural variantiVAR_005736136F → S in VHLD. 1 PublicationCorresponds to variant dbSNP:rs5030833EnsemblClinVar.1
Natural variantiVAR_008099136F → Y in VHLD. 1
Natural variantiVAR_005738143D → E in VHLD; type II. 1 Publication1
Natural variantiVAR_008100145Q → H in VHLD. Corresponds to variant dbSNP:rs771727849EnsemblClinVar.1
Natural variantiVAR_005739148Missing in VHLD; type I. 1
Natural variantiVAR_005740149A → T in VHLD; type II. 1 PublicationCorresponds to variant dbSNP:rs587780077EnsemblClinVar.1
Natural variantiVAR_005741154P → L in VHLD; type II. 1
Natural variantiVAR_005742155V → G in VHLD; type II. 1 Publication1
Natural variantiVAR_008101155V → M in VHLD; with RCC. Corresponds to variant dbSNP:rs869025659EnsemblClinVar.1
Natural variantiVAR_005744156Y → D in VHLD; type I. 1 Publication1
Natural variantiVAR_005746157T → I in VHLD; type II. 2 PublicationsCorresponds to variant dbSNP:rs869025660EnsemblClinVar.1
Natural variantiVAR_005747157T → TF in VHLD; type I. 1
Natural variantiVAR_005748158L → P in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex. 3 PublicationsCorresponds to variant dbSNP:rs121913346EnsemblClinVar.1
Natural variantiVAR_005749158L → V in VHLD; type I. 1 Publication1
Natural variantiVAR_005750159K → E in VHLD; type II. 1
Natural variantiVAR_005753161R → G in VHLD; type II. Corresponds to variant dbSNP:rs5030818Ensembl.1
Natural variantiVAR_005754162C → F in VHLD; type I; No effect on interaction with HIF1A nor on HIF1A degradation. 4 PublicationsCorresponds to variant dbSNP:rs397516444EnsemblClinVar.1
Natural variantiVAR_005755162C → R in VHLD; type I. 1 Publication1
Natural variantiVAR_005756162C → W in VHLD; type I-II. 2 PublicationsCorresponds to variant dbSNP:rs869025662EnsemblClinVar.1
Natural variantiVAR_005757162C → Y in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs397516444EnsemblClinVar.1
Natural variantiVAR_008102164Q → H in VHLD. 1
Natural variantiVAR_005758164Q → R in VHLD; type II. 2 PublicationsCorresponds to variant dbSNP:rs267607170EnsemblClinVar.1
Natural variantiVAR_008103166V → D in VHLD; with RCC. 1
Natural variantiVAR_005759166V → F in VHLD; type IIA. 2 PublicationsCorresponds to variant dbSNP:rs104893825EnsemblClinVar.1
Natural variantiVAR_005760167R → G in VHLD; type I-II. 1 PublicationCorresponds to variant dbSNP:rs5030820EnsemblClinVar.1
Natural variantiVAR_005763170V → D in VHLD; type II. 1 Publication1
Natural variantiVAR_005764170V → F in VHLD; type II. 1
Natural variantiVAR_005765170V → G in VHLD; type I. 2 Publications1
Natural variantiVAR_005766175Y → D in VHLD; type I. 1 Publication1
Natural variantiVAR_008104176R → W in VHLD. 1
Natural variantiVAR_005767177R → RLRVKPE in VHLD; type I. 1
Natural variantiVAR_005768178L → P in VHLD; type I-II; common mutation. 1 Publication1
Natural variantiVAR_005769178L → Q in VHLD; type II. Corresponds to variant dbSNP:rs5030822Ensembl.1
Natural variantiVAR_005770180I → V in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs377715747EnsemblClinVar.1
Natural variantiVAR_005772184L → P in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs1064793878Ensembl.1
Natural variantiVAR_005771184L → R in VHLD; type I. 1 Publication1
Natural variantiVAR_005773186E → K in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs367545984EnsemblClinVar.1
Natural variantiVAR_005774186Missing in VHLD. 1 Publication1
Natural variantiVAR_005775188L → P in VHLD; type I-II. 1 Publication1
Natural variantiVAR_005776188L → Q in VHLD; type I. 1 Publication1
Erythrocytosis, familial, 2 (ECYT2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by an increase in serum red blood cell mass, hypersensitivity of erythroid progenitors to erythropoietin, increased erythropoietin serum levels, and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events.
See also OMIM:263400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034994126D → Y in ECYT2. 1 PublicationCorresponds to variant dbSNP:rs104893831EnsemblClinVar.1
Natural variantiVAR_005777188L → V in ECYT2, pheochromocytoma and VHLD; type IIA. 2 PublicationsCorresponds to variant dbSNP:rs5030824EnsemblClinVar.1
Natural variantiVAR_034999191H → D in ECYT2. 1 PublicationCorresponds to variant dbSNP:rs28940301EnsemblClinVar.1
Natural variantiVAR_035000192P → S in ECYT2. 1 PublicationCorresponds to variant dbSNP:rs28940300EnsemblClinVar.1
Renal cell carcinoma (RCC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRenal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype.
See also OMIM:144700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034998163L → P in RCC; with paraneoplastic erythrocytosis; inhibits binding to HIF1AN. 2 PublicationsCorresponds to variant dbSNP:rs28940297EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi98Y → N: No interaction with HIF1A. No HIF1A degradation. 1 Publication1

Keywords - Diseasei

Congenital erythrocytosis, Disease mutation, Tumor suppressor

Organism-specific databases

DisGeNETi7428
GeneReviewsiVHL
MalaCardsiVHL
MIMi144700 phenotype
171300 phenotype
193300 phenotype
263400 phenotype
OpenTargetsiENSG00000134086
Orphaneti238557 Chuvash erythrocytosis
29072 Hereditary pheochromocytoma-paraganglioma
276624 Sporadic pheochromocytoma
892 Von Hippel-Lindau disease
PharmGKBiPA37307

Chemistry databases

ChEMBLiCHEMBL3108660

Polymorphism and mutation databases

BioMutaiVHL
DMDMi4033778

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000658091 – 213von Hippel-Lindau disease tumor suppressorAdd BLAST213

Proteomic databases

EPDiP40337
MaxQBiP40337
PaxDbiP40337
PeptideAtlasiP40337
PRIDEiP40337
ProteomicsDBi55362
55363 [P40337-2]
55364 [P40337-3]

PTM databases

iPTMnetiP40337
PhosphoSitePlusiP40337

Expressioni

Tissue specificityi

Expressed in the adult and fetal brain and kidney.

Developmental stagei

At 4-10 weeks pc, strong expression in the developing central nervous system, kidneys, testis and lung. Differentially expressed within renal tubules.1 Publication

Gene expression databases

BgeeiENSG00000134086 Expressed in 139 organ(s), highest expression level in leukocyte
CleanExiHS_VHL
ExpressionAtlasiP40337 baseline and differential
GenevisibleiP40337 HS

Organism-specific databases

HPAiCAB005430
HPA031631
HPA031632

Interactioni

Subunit structurei

Component of the VCB (VHL-Elongin BC-CUL2) complex; this complex acts as a ubiquitin-ligase E3 and directs proteasome-dependent degradation of targeted proteins. Interacts with CUL2; this interaction is dependent on the integrity of the trimeric VBC complex. Interacts (via the beta domain) with HIF1A (via the NTAD domain); this interaction mediates degradation of HIF1A in normoxia and, in hypoxia, prevents ubiquitination and degradation of HIF1A by mediating hypoxia-induced translocation to the nucleus, a process which requires a hypoxia-dependent regulatory signal. Interacts with ADRB2; the interaction, in normoxia, is dependent on hydroxylation of ADRB2 and the subsequent VCB-mediated ubiquitination and degradation of ADRB2. Under hypoxia, hydroxylation, interaction with VHL, ubiquitination and subsequent degradation of ADRB2 are dramatically decreased. Interacts with RNF139, USP33 and JADE1. Found in a complex composed of LIMD1, VHL, EGLN1/PHD2, ELOB and CUL2. Isoform 1 and isoform 3 interact with LIMD1 (via LIM zinc-binding 2), AJUBA (via LIM domains) and WTIP (via LIM domains). Interacts with EPAS1. Interacts with CARD9.16 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113269, 364 interactors
CORUMiP40337
DIPiDIP-32585N
IntActiP40337, 49 interactors
MINTiP40337
STRINGi9606.ENSP00000256474

Chemistry databases

BindingDBiP40337

Structurei

Secondary structure

1213
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00287
ProteinModelPortaliP40337
SMRiP40337
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP40337

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati14 – 1815
Repeati19 – 2325
Repeati24 – 2835
Repeati29 – 3345
Repeati34 – 3855
Repeati39 – 4365
Repeati44 – 4875
Repeati49 – 5385

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni14 – 538 X 5 AA tandem repeats of G-[PAVG]-E-E-[DAYSLE]Add BLAST40
Regioni100 – 155Involved in binding to CCT complexAdd BLAST56
Regioni157 – 166Interaction with Elongin BC complex10

Domaini

The Elongin BC complex binding domain is also known as BC-box with the consensus [APST]-L-x3-C-x3-[AILV].

Sequence similaritiesi

Belongs to the VHL family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4710 Eukaryota
ENOG4111PRU LUCA
GeneTreeiENSGT00390000014353
HOGENOMiHOG000030904
HOVERGENiHBG044781
InParanoidiP40337
KOiK03871
OMAiVGHPWMF
OrthoDBiEOG091G0NHA
PhylomeDBiP40337
TreeFamiTF318985

Family and domain databases

CDDicd05468 pVHL, 1 hit
Gene3Di1.10.750.10, 1 hit
2.60.40.780, 1 hit
InterProiView protein in InterPro
IPR002714 VHL
IPR024048 VHL_alpha_dom
IPR037139 VHL_alpha_dom_sf
IPR024053 VHL_beta_dom
IPR037140 VHL_beta_dom_sf
IPR036208 VHL_sf
IPR022772 VHL_tumour_suppress_b/a_dom
PANTHERiPTHR15160:SF1 PTHR15160:SF1, 1 hit
PfamiView protein in Pfam
PF01847 VHL, 1 hit
PF17211 VHL_C, 1 hit
SUPFAMiSSF49468 SSF49468, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basket
Isoform 1 (identifier: P40337-1) [UniParc]FASTAAdd to basket
Also known as: VHL30, VHLp24(MPR)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPRRAENWDE AEVGAEEAGV EEYGPEEDGG EESGAEESGP EESGPEELGA
60 70 80 90 100
EEEMEAGRPR PVLRSVNSRE PSQVIFCNRS PRVVLPVWLN FDGEPQPYPT
110 120 130 140 150
LPPGTGRRIH SYRGHLWLFR DAGTHDGLLV NQTELFVPSL NVDGQPIFAN
160 170 180 190 200
ITLPVYTLKE RCLQVVRSLV KPENYRRLDI VRSLYEDLED HPNVQKDLER
210
LTQERIAHQR MGD
Note: Major isoform.
Length:213
Mass (Da):24,153
Last modified:December 15, 1998 - v2
Checksum:iBA5D6765FBC16EA7
GO
Isoform 2 (identifier: P40337-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     114-154: Missing.

Show »
Length:172
Mass (Da):19,654
Checksum:i46E2C22E8C98393D
GO
Isoform 3 (identifier: P40337-3) [UniParc]FASTAAdd to basket
Also known as: VHL19, VHLp18(MEA)

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: Missing.

Note: Produced by alternative initiation at Met-54 of isoform 1.
Show »
Length:160
Mass (Da):18,532
Checksum:i2644C3B8C3A87D64
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03456225P → L in pheochromocytoma. 3 PublicationsCorresponds to variant dbSNP:rs35460768EnsemblClinVar.1
Natural variantiVAR_00567038S → P in VHLD; type II. 1 Publication1
Natural variantiVAR_00567152E → K in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs373068386EnsemblClinVar.1
Natural variantiVAR_03498763L → P in pheochromocytoma. 1 PublicationCorresponds to variant dbSNP:rs104893827EnsemblClinVar.1
Natural variantiVAR_03498864R → P in pheochromocytoma. 1 PublicationCorresponds to variant dbSNP:rs104893826EnsemblClinVar.1
Natural variantiVAR_03498965S → A in pheochromocytoma. 1 PublicationCorresponds to variant dbSNP:rs869025616EnsemblClinVar.1
Natural variantiVAR_00567265S → L in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs5030826EnsemblClinVar.1
Natural variantiVAR_00567365S → W in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs5030826EnsemblClinVar.1
Natural variantiVAR_00567466 – 73Missing in VHLD; type I. 8
Natural variantiVAR_00567568S → W in pheochromocytoma and VHLD; type II. 2 Publications1
Natural variantiVAR_00567670E → K in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030802EnsemblClinVar.1
Natural variantiVAR_00567774V → G in VHLD; type I-II. 1 PublicationCorresponds to variant dbSNP:rs5030803Ensembl.1
Natural variantiVAR_03499075Missing in VHLD. 1 Publication1
Natural variantiVAR_00567976F → I in VHLD; type I. 1 Publication1
Natural variantiVAR_00568076F → L in VHLD; type I. 1 Publication1
Natural variantiVAR_00568176F → S in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs730882033Ensembl.1
Natural variantiVAR_00567876Missing in VHLD; type I; common mutation. 1 Publication1
Natural variantiVAR_00568278N → H in VHLD; type I. 1 Publication1
Natural variantiVAR_00568378N → S in VHLD; type I; common mutation. 1 PublicationCorresponds to variant dbSNP:rs5030804EnsemblClinVar.1
Natural variantiVAR_00568478N → T in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030804EnsemblClinVar.1
Natural variantiVAR_00568579R → P in VHLD. 1
Natural variantiVAR_00568680S → I in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030805Ensembl.1
Natural variantiVAR_00568880S → N in pheochromocytoma and VHLD; type I. 3 PublicationsCorresponds to variant dbSNP:rs5030805Ensembl.1
Natural variantiVAR_00568780S → R in VHLD; type I. 2 Publications1
Natural variantiVAR_00568981P → S in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs104893829EnsemblClinVar.1
Natural variantiVAR_00569182 – 84Missing in VHLD. 3
Natural variantiVAR_00569082R → P in VHLD; type I. Corresponds to variant dbSNP:rs794726890EnsemblClinVar.1
Natural variantiVAR_00569284V → L in VHLD; type II and type 2C. 2 PublicationsCorresponds to variant dbSNP:rs5030827EnsemblClinVar.1
Natural variantiVAR_00569386P → A in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs398123481EnsemblClinVar.1
Natural variantiVAR_00809786P → H in VHLD. 1
Natural variantiVAR_00569486P → L in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs730882034EnsemblClinVar.1
Natural variantiVAR_00569586P → R in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs730882034EnsemblClinVar.1
Natural variantiVAR_00569686P → S in VHLD. 2 PublicationsCorresponds to variant dbSNP:rs398123481EnsemblClinVar.1
Natural variantiVAR_00569788W → R in VHLD; type I. 2 Publications1
Natural variantiVAR_00569888W → S in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs119103277EnsemblClinVar.1
Natural variantiVAR_00569989L → H in lung cancer. Corresponds to variant dbSNP:rs5030807EnsemblClinVar.1
Natural variantiVAR_00570089L → P in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030807EnsemblClinVar.1
Natural variantiVAR_00570191F → L in cerebellar hemangioblastoma. 1 PublicationCorresponds to variant dbSNP:rs1060503563Ensembl.1
Natural variantiVAR_00570292 – 97Missing in VHLD; type I. 6
Natural variantiVAR_00570393G → C in pheochromocytoma and VHLD; type II. 2 PublicationsCorresponds to variant dbSNP:rs5030808EnsemblClinVar.1
Natural variantiVAR_00570493G → D in VHLD. 1
Natural variantiVAR_00570593G → S in pheochromocytoma and VHLD; type II. 1 PublicationCorresponds to variant dbSNP:rs5030808EnsemblClinVar.1
Natural variantiVAR_00570696Q → P in VHLD; type I. 1 Publication1
Natural variantiVAR_00570798Y → H in pheochromocytoma and VHLD; type II. 1 PublicationCorresponds to variant dbSNP:rs5030809EnsemblClinVar.1
Natural variantiVAR_005708101L → G in VHLD; type I; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_005709101L → R in VHLD; type I. 1 Publication1
Natural variantiVAR_005710104G → A in cerebellar hemangioblastoma. 1 Publication1
Natural variantiVAR_005711105T → P in VHLD; type I. 1 Publication1
Natural variantiVAR_005712106G → D in lung cancer. 1
Natural variantiVAR_034991107R → G in pheochromocytoma. 1 PublicationCorresponds to variant dbSNP:rs397516440EnsemblClinVar.1
Natural variantiVAR_005713107R → P in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs193922609EnsemblClinVar.1
Natural variantiVAR_055087110H → Y1 PublicationCorresponds to variant dbSNP:rs17855706Ensembl.1
Natural variantiVAR_005714111S → C in VHLD; type II. 1
Natural variantiVAR_005715111S → N in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs869025631EnsemblClinVar.1
Natural variantiVAR_005716111S → R in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs765978945EnsemblClinVar.1
Natural variantiVAR_005717112Y → H in VHLD; type IIA. Corresponds to variant dbSNP:rs104893824EnsemblClinVar.1
Natural variantiVAR_034992112Y → N in VHLD. 1 PublicationCorresponds to variant dbSNP:rs104893824EnsemblClinVar.1
Natural variantiVAR_005718114G → C in VHLD; type II. 1 Publication1
Natural variantiVAR_005719114G → R in VHLD; type I-II. Corresponds to variant dbSNP:rs869025636EnsemblClinVar.1
Natural variantiVAR_005720114G → S in VHLD; type II. 1 Publication1
Natural variantiVAR_005723115H → Q in VHLD; type II. 1 Publication1
Natural variantiVAR_008098115H → R in VHLD; type II. Corresponds to variant dbSNP:rs5030812Ensembl.1
Natural variantiVAR_005722115H → Y in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030811Ensembl.1
Natural variantiVAR_005724116L → V in VHLD. 1 Publication1
Natural variantiVAR_005725117W → C in VHLD; type I. 3 PublicationsCorresponds to variant dbSNP:rs727504215EnsemblClinVar.1
Natural variantiVAR_005726118L → P in VHLD; type I. 2 PublicationsCorresponds to variant dbSNP:rs5030830EnsemblClinVar.1
Natural variantiVAR_005727118L → R in VHLD. 1 Publication1
Natural variantiVAR_005728119F → L in pheochromocytoma and VHLD; type II. 1 Publication1
Natural variantiVAR_005729119F → S in VHLD; type II. 1 Publication1
Natural variantiVAR_005730121D → G in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs5030832EnsemblClinVar.1
Natural variantiVAR_034993122A → I in pheochromocytoma; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_034994126D → Y in ECYT2. 1 PublicationCorresponds to variant dbSNP:rs104893831EnsemblClinVar.1
Natural variantiVAR_005731128L → F in VHLD; type II. 1
Natural variantiVAR_005732129L → LE in VHLD. 1
Natural variantiVAR_005733130V → L in ECYT2 and VHLD; type I. 3 PublicationsCorresponds to variant dbSNP:rs104893830EnsemblClinVar.1
Natural variantiVAR_005734131N → K in VHLD; type I. 1 PublicationCorresponds to variant dbSNP:rs1064794272Ensembl.1
Natural variantiVAR_005735131N → T in VHLD; type I. 1 Publication1
Natural variantiVAR_034995135L → F in hemangioblastoma. 1 PublicationCorresponds to variant dbSNP:rs119103278EnsemblClinVar.1
Natural variantiVAR_005737136F → C in pheochromocytoma and VHLD; type II. 1 PublicationCorresponds to variant dbSNP:rs5030833EnsemblClinVar.1
Natural variantiVAR_005736136F → S in VHLD. 1 PublicationCorresponds to variant dbSNP:rs5030833EnsemblClinVar.1
Natural variantiVAR_008099136F → Y in VHLD. 1
Natural variantiVAR_005738143D → E in VHLD; type II. 1 Publication1
Natural variantiVAR_008100145Q → H in VHLD. Corresponds to variant dbSNP:rs771727849EnsemblClinVar.1
Natural variantiVAR_034996147I → T in pheochromocytoma. 1 PublicationCorresponds to variant dbSNP:rs1060503555Ensembl.1
Natural variantiVAR_005739148Missing in VHLD; type I. 1
Natural variantiVAR_005740149A → T in VHLD; type II. 1 PublicationCorresponds to variant dbSNP:rs587780077EnsemblClinVar.1
Natural variantiVAR_005741154P → L in VHLD; type II. 1
Natural variantiVAR_005742155V → G in VHLD; type II. 1 Publication1
Natural variantiVAR_008101155V → M in VHLD; with RCC. Corresponds to variant dbSNP:rs869025659EnsemblClinVar.1
Natural variantiVAR_005743156Y → C in pheochromocytoma and VHLD; type I. 3 PublicationsCorresponds to variant dbSNP:rs397516441EnsemblClinVar.1
Natural variantiVAR_005744156Y → D in VHLD; type I. 1 Publication1
Natural variantiVAR_034997156Y → N in pheochromocytoma. 1 Publication1
Natural variantiVAR_005746157T → I in VHLD; type II. 2 PublicationsCorresponds to variant dbSNP:rs869025660EnsemblClinVar.1
Natural variantiVAR_005747157T → TF in VHLD; type I. 1
Natural variantiVAR_005748158L → P in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex. 3 PublicationsCorresponds to variant