KEGG   VARIANT: 1029v2Help
Entry
1029v2                      Variant                                

Name
CDKN2A mutation
Gene
CDKN2A  cyclin dependent kinase inhibitor 2A [KO:K06621]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation G23D
ClinVar: 420108
dbSNP: rs1064794292
COSM: 13800
Variation
mutation R80STOP
ClinVar: 9409
dbSNP: rs121913388
COSM: 12475
Variation
mutation H83Y
ClinVar: 376307
dbSNP: rs121913385
COSM: 12504
Variation
mutation Q50STOP
ClinVar: 220711
dbSNP: rs864622636
COSM: 12506
Variation
mutation R58STOP
ClinVar: 376310
dbSNP: rs121913382
Variation
mutation E61STOP
ClinVar: 376308
dbSNP: rs121913383
Variation
mutation E69STOP
ClinVar: 376308
dbSNP: rs121913383
COSM: 13281
Variation
mutation E88STOP
ClinVar: 376305
dbSNP: rs121913384
COSM: 12512
Variation
mutation W110STOP
ClinVar: 376303
dbSNP: rs121913389
Variation
mutation P114L
ClinVar: 77637
dbSNP: rs121913386
COSM: 12476
Variation
mutation Q50H
ClinVar: 376384
dbSNP: rs1057519882
COSM: 3395757 1648141
Variation
mutation R112G
ClinVar: 233484
dbSNP: rs876660436
COSM: 12503
Variation
mutation H123Q
ClinVar: 127526
dbSNP: rs6413463
COSM: 13463
Variation
mutation Y44STOP
ClinVar: 182409
dbSNP: rs730881673
Variation
mutation D84Y
ClinVar: 376306
dbSNP: rs11552822
COSM: 13299
Variation
mutation D108Y
ClinVar: 182423
dbSNP: rs121913381
COSM: 13489
Variation
mutation V106M
COSM: 13505
Variation
mutation M52K
COSM: 13436
Variation
mutation R107C
COSM: 13788
Variation
mutation Y129C
COSM: 13633
Variation
mutation N42D
COSM: 13498
Variation
mutation V51I
COSM: 13496
Variation
mutation V51D
COSM: 3395750
Variation
mutation A73T
COSM: 13766
Variation
mutation H98Y
COSM: 13787
Variation
mutation A85T
COSM: 13786
Variation
mutation T93R
COSM: 13796
Variation
mutation A102V
COSM: 13675
Variation
mutation A20P
COSM: 13521
Variation
mutation G35E
COSM: 13259
Variation
mutation P48L
COSM: 12743
Variation
mutation P81L
COSM: 13224
Variation
mutation E88K
COSM: 12550
Variation
mutation G89S
COSM: 13723
Variation
mutation D116Y
COSM: 13807
Variation
mutation H98P
COSM: 87427
Variation
mutation D74N
COSM: 13474
Variation
mutation D108H
COSM: 13520
Variation
mutation E69K
COSM: 12508
Variation
mutation G111D
COSM: 13508
Variation
mutation E69V
COSM: 13717
Variation
mutation A20E
COSM: 12505
Variation
mutation H66Y
COSM: 13620
Variation
mutation H83N
COSM: 13705
Variation
mutation D84H
COSM: 13613
Variation
mutation T93A
COSM: 13617
Variation
mutation E120K
COSM:13296
Variation
mutation E120A
COSM: 13614
Network
nt06230  Cell cycle G1/S
nt06262  Pancreatic cancer
nt06266  Non-small cell lung cancer
nt06268  Melanoma
nt06276  Chronic myeloid leukemia
  Element
N00070  Mutation-inactivated p16(INK4a) to p16-cell cycle G1/S
N00076  Mutation-inactivated p14(ARF) to p21-cell cycle G1/S
Reference
PMID:9132280
  Authors
Foulkes WD, Flanders TY, Pollock PM, Hayward NK
  Title
The CDKN2A (p16) gene and human cancer.
  Journal
Mol Med 3:5-20 (1997)
Reference
  Authors
Freedberg DE, Rigas SH, Russak J, Gai W, Kaplow M, Osman I, Turner F, Randerson-Moor JA, Houghton A, Busam K, Timothy Bishop D, Bastian BC, Newton-Bishop JA, Polsky D
  Title
Frequent p16-independent inactivation of p14ARF in human melanoma.
  Journal
J Natl Cancer Inst 100:784-95 (2008)
DOI:10.1093/jnci/djn157

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