DisGeNET - a database of gene-disease associations

Li-Fraumeni Syndrome, C0085390

Variant: rs755394212 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs755394212

TP53

0.700

GeneticVariation

CLINVAR

The p53 C terminus controls site-specific DNA binding and promotes structural changes within the central DNA binding domain.

25794615

2015

dbSNP:

rs755394212

TP53

0.700

GeneticVariation

CLINVAR

Regulation of the p53 response and its relationship to cancer.

26205489

2015

dbSNP:

rs755394212

TP53

0.700

GeneticVariation

CLINVAR

p53 requires an intact C-terminal domain for DNA binding and transactivation.

22178617

2012

dbSNP:

rs755394212

TP53

0.700

GeneticVariation

CLINVAR

p53 post-translational modification: deregulated in tumorigenesis.

20932800

2010