KEGG   VARIANT: 7157v1Help
Entry
7157v1                      Variant                                

Name
TP53 mutation
Gene
TP53  tumor protein p53 [KO:K04451]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R175H
ClinVar: 12374
dbSNP: rs28934578
Variation
mutation R248Q
ClinVar: 12356
dbSNP: rs11540652
Variation
mutation R273H
ClinVar: 12366
dbSNP: rs28934576
Variation
mutation R248W
ClinVar: 12347
dbSNP: rs121912651
Variation
mutation G245S
ClinVar: 12365
dbSNP: rs28934575
Variation
mutation R273C
ClinVar: 43594
dbSNP: rs121913343
Variation
mutation R282W
ClinVar: 12364
dbSNP: rs28934574
Variation
mutation G245D
ClinVar: 12355
dbSNP: rs121912656
Variation
mutation Y220C
ClinVar: 127819
dbSNP: rs121912666
Variation
mutation C176S
ClinVar: 376570
dbSNP: rs967461896
Variation
mutation L257Q
ClinVar: 12372
dbSNP: rs28934577
Network
nt06240  Transcription
nt06260  Colorectal cancer
nt06261  Gastric cancer
nt06262  Pancreatic cancer
nt06263  Hepatocellular carcinoma
nt06265  Bladder cancer
nt06266  Non-small cell lung cancer
nt06267  Small cell lung cancer
nt06268  Melanoma
nt06269  Basal cell carcinoma
nt06270  Breast cancer
nt06271  Endometrial cancer
nt06273  Glioma
nt06274  Thyroid cancer
nt06276  Chronic myeloid leukemia
  Element
N00115  Mutation-inactivated TP53 to transcription
Reference
  Authors
Freed-Pastor WA, Prives C
  Title
Mutant p53: one name, many proteins.
  Journal
Genes Dev 26:1268-86 (2012)
DOI:10.1101/gad.190678.112
Reference
  Authors
Muller PA, Vousden KH
  Title
Mutant p53 in cancer: new functions and therapeutic opportunities.
  Journal
Cancer Cell 25:304-17 (2014)
DOI:10.1016/j.ccr.2014.01.021
Reference
  Authors
Vautier G, Bomford AB, Portmann BC, Metivier E, Williams R, Ryder SD
  Title
p53 mutations in british patients with hepatocellular carcinoma: clustering in genetic hemochromatosis.
  Journal
Gastroenterology 117:154-60 (1999)
DOI:10.1016/S0016-5085(99)70562-7
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