KEGG   VARIANT: 7157v1
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
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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