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KEGG   VARIANT: 1499v1
Entry
1499v1                      Variant                                
Name
CTNNB1 mutation
Type
Gain of function
Gene
CTNNB1  catenin beta 1 [KO:K02105]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation S33Y
ClinVar: 17577
dbSNP: rs121913400
COSM: 5673
Variation
mutation S45del
ClinVar: 17576
dbSNP: rs587776850
Variation
mutation T41A
ClinVar: 17580
dbSNP: rs121913412
COSM: 5664
Variation
mutation T41I
ClinVar: 17587
dbSNP: rs121913413
COSM: 5676
Variation
mutation S45F
ClinVar: 17588
dbSNP: rs121913409
COSM: 5667
Variation
mutation S45C
ClinVar: 376242
dbSNP: rs121913409
COSM: 5689
Variation
mutation S37A
ClinVar: 376235
dbSNP: rs121913228
COSM: 5675
Variation
mutation S37C
ClinVar: 17579
dbSNP: rs121913403
COSM: 5679
Variation
mutation S33F
ClinVar: 17583
dbSNP: rs121913400
COSM: 5669
Variation
mutation G34V
ClinVar: 17582
dbSNP: rs28931589
Variation
mutation S33C
ClinVar: 376231
dbSNP: rs121913400
COSM: 5677
Variation
mutation G34E
ClinVar: 17584
dbSNP: rs28931589
COSM: 5671
Variation
mutation G34R
ClinVar: 376233 376232
dbSNP: rs121913399
COSM: 5686
Variation
mutation S45P
ClinVar: 17589
dbSNP: rs121913407
COSM: 5663
Variation
mutation D32G
ClinVar: 17578
dbSNP: rs121913396
COSM: 5681
Variation
mutation D32N
ClinVar: 376228
dbSNP: rs28931588
COSM: 5672
Variation
mutation S45Y
ClinVar: 375895
dbSNP: rs121913409
COSM: 5692
Variation
mutation H36P
COSM: 5678
Network
nt06215  WNT signaling (cancer)
nt06260  Colorectal cancer
nt06263  Hepatocellular carcinoma
nt06271  Endometrial cancer
nt06505  WNT signaling
Disease
H00020  Colorectal cancer
H00026  Endometrial cancer
H00048  Hepatocellular carcinoma
Reference
PMID:9065402
  Authors
Morin PJ, Sparks AB, Korinek V, Barker N, Clevers H, Vogelstein B, Kinzler KW
  Title
Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC.
  Journal
Science 275:1787-90 (1997)
DOI:10.1126/science.275.5307.1787
Reference
PMID:25313745
  Authors
Rafael S, Veganzones S, Vidaurreta M, de la Orden V, Maestro ML
  Title
Effect of beta-catenin alterations in the prognosis of patients with sporadic colorectal cancer.
  Journal
J Cancer Res Ther 10:591-6 (2014)
DOI:10.4103/0973-1482.139161
Reference
PMID:9721853
  Authors
Fukuchi T, Sakamoto M, Tsuda H, Maruyama K, Nozawa S, Hirohashi S
  Title
Beta-catenin mutation in carcinoma of the uterine endometrium.
  Journal
Cancer Res 58:3526-8 (1998)
Reference
PMID:12845670
  Authors
Edamoto Y, Hara A, Biernat W, Terracciano L, Cathomas G, Riehle HM, Matsuda M, Fujii H, Scoazec JY, Ohgaki H
  Title
Alterations of RB1, p53 and Wnt pathways in hepatocellular carcinomas associated with hepatitis C, hepatitis B and alcoholic liver cirrhosis.
  Journal
Int J Cancer 106:334-41 (2003)
DOI:10.1002/ijc.11254

  All links  
Network (6)   
   KEGG NETWORK (6)   
Disease (3)   
   KEGG DISEASE (3)   
Gene (46)   
   CLINVAR (18)   
   COSM (16)   
   DBSNP (12)   
Literature (4)   
   PubMed (4)   
All databases (59)   

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