KEGG   VARIANT: 7428v2
Entry
7428v2                      Variant                                
Name
VHL mutation
Gene
VHL  von Hippel-Lindau tumor suppressor [KO:K03871]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R167Q
ClinVar: 2216
dbSNP: rs5030821
COSM: 17983
Variation
mutation C162F
ClinVar: 43604
dbSNP: rs397516444
COSM: 25676
Variation
mutation N78S
ClinVar: 93326
dbSNP: rs5030804
COSM: 17855 5006570
Variation
mutation Y98H
ClinVar: 2223
dbSNP: rs5030809
Variation
mutation D121Y
COSM: 34019
Variation
mutation V130F
COSM: 97148
Network
nt06225  HIF-1 signaling (cancer)
nt06264  Renal cell carcinoma
Disease
H00021  Renal cell carcinoma
Reference
PMID:25371412
  Authors
Couve S, Ladroue C, Laine E, Mahtouk K, Guegan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pages JC, Collin C, Lasne F, Benusiglio PR, Bressac-de Paillerets B, Feunteun J, Lazar V, Gimenez-Roqueplo AP, Mazure NM, Dessen P, Tchertanov L, Mole DR, Kaelin W, Ratcliffe P, Richard S, Gardie B
  Title
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
  Journal
Cancer Res 74:6554-64 (2014)
DOI:10.1158/0008-5472.CAN-14-1161
Reference
PMID:21715564
  Authors
Rechsteiner MP, von Teichman A, Nowicka A, Sulser T, Schraml P, Moch H
  Title
VHL gene mutations and their effects on hypoxia inducible factor HIFalpha: identification of potential driver and passenger mutations.
  Journal
Cancer Res 71:5500-11 (2011)
DOI:10.1158/0008-5472.CAN-11-0757
Reference
PMID:22125026
  Authors
Arjumand W, Sultana S
  Title
Role of VHL gene mutation in human renal cell carcinoma.
  Journal
Tumour Biol 33:9-16 (2012)
DOI:10.1007/s13277-011-0257-3
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