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

N. diseases: 134; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
0.740 GeneticVariation BEFREE Histopathologically, the four G34R-mutant cases included three glioblastomas and one astroblastoma. 28447171 2017
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
C 0.740 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
0.740 GeneticVariation BEFREE H3F3A mutations are seen in ∼30% of pediatric glioblastoma (GBMs) and involve either the lysine residue at position 27 (K27M) or glycine at position 34 (G34R/V). 23414300 2013
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
0.740 GeneticVariation BEFREE Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1). 23907119 2013
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
0.740 GeneticVariation BEFREE Exon sequencing has identified a mutation in K27M of the histone H3.3 gene (H3F3A K27M and G34R/V) in about 20% of pediatric glioblastomas, but it remains to be seen whether these mutations can be considered specific for pediatric diffuse high-grade astrocytomas or also occur in other pediatric brain tumors. 23429371 2013
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0004114
Disease:
Astrocytoma
T 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0004114
Disease:
Astrocytoma
0.720 GeneticVariation BEFREE Additionally, H3F3A K27M was not detected in the 2 diffuse astrocytomas. 24285547 2014
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0004114
Disease:
Astrocytoma
0.720 GeneticVariation BEFREE Because H3F3A K27M mutations occur exclusively in pediatric diffuse high-grade astrocytomas, analysis of codon 27 mutational status could be useful in the differential diagnosis of these neoplasms. 23429371 2013
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0206686
Disease:
Adrenocortical carcinoma
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0006118
Disease:
Brain Neoplasms
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0677865
Disease:
Brain Stem Glioma
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0677865
Disease:
Brain Stem Glioma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease:
Overgrowth
G 0.700 GeneticVariation CLINVAR Critical Role of Histone Turnover in Neuronal Transcription and Plasticity. 26139371 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0432072
Disease:
Dysmorphic features
G 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 GeneticVariation CLINVAR Critical Role of Histone Turnover in Neuronal Transcription and Plasticity. 26139371 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease:
Overgrowth
G 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0432072
Disease:
Dysmorphic features
G 0.700 GeneticVariation CLINVAR Critical Role of Histone Turnover in Neuronal Transcription and Plasticity. 26139371 2015
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C2750850
Disease:
GLIOMA SUSCEPTIBILITY 1
0.700 GeneticVariation UNIPROT Histone H3.3. mutations drive pediatric glioblastoma through upregulation of MYCN. 23539269 2013
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 GeneticVariation CLINVAR Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer. 23415232 2013
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0432072
Disease:
Dysmorphic features
G 0.700 GeneticVariation CLINVAR Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer. 23415232 2013
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease:
Overgrowth
G 0.700 GeneticVariation CLINVAR Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer. 23415232 2013
dbSNP: rs1553260624
rs1553260624
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C2750850
Disease:
GLIOMA SUSCEPTIBILITY 1
0.700 GeneticVariation UNIPROT Histone H3.3. mutations drive pediatric glioblastoma through upregulation of MYCN. 23539269 2013
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C2750850
Disease:
GLIOMA SUSCEPTIBILITY 1
0.700 GeneticVariation UNIPROT Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. 22286216 2012
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C2750850
Disease:
GLIOMA SUSCEPTIBILITY 1
0.700 GeneticVariation UNIPROT Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. 22286061 2012