UBE2V1, ubiquitin conjugating enzyme E2 V1, 7335

N. diseases: 46; N. variants: 6
Disease: Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1423493595
rs1423493595
Entrez Id: 7335;387522
Gene Symbol: UBE2V1;TMEM189-UBE2V1
UBE2V1;TMEM189-UBE2V1
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE These results demonstrate that the amino acid change C135R in the human TP53 generates the loss of TP53 DNA-binding activity directly affecting its role as a transcription factor and suggests that this observation can explain part of the phenotype described in patients affected by this type of tumor. 17914575 2007