H3-3A, H3.3 histone A, 3020

N. diseases: 134; N. variants: 4
Disease: Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553260624
rs1553260624
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0027651
Disease:
Neoplasms 		0.020 GeneticVariation BEFREE These results indicate that G34R-mutant tumors are likely to show extensive infiltration and alterations in global histone trimethylation might also play an important role in G34R mutant tumors. 28447171 2017
dbSNP: rs1553260624
rs1553260624
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0027651
Disease:
Neoplasms 		0.020 GeneticVariation BEFREE Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation. 22286061 2012