rs1057519902
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Glioblastoma
0.740
GeneticVariation
BEFREE
Histopathologically, the four G34R -mutant cases included three glioblastomas and one astroblastoma.
28447171
2017
rs1057519902
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Glioblastoma
C
0.740
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs1057519902
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Glioblastoma
0.740
GeneticVariation
BEFREE
H3F3A mutations are seen in ∼30% of pediatric glioblastoma (GBM s) and involve either the lysine residue at position 27 (K27M) or glycine at position 34 (G34R /V).
23414300
2013
rs1057519902
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
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
rs1057519902
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
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
rs1057519903
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Astrocytoma
T
0.720
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs1057519903
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Astrocytoma
0.720
GeneticVariation
BEFREE
Additionally, H3F3A K27M was not detected in the 2 diffuse astrocytomas .
24285547
2014
rs1057519903
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
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
rs1057519902
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Adrenocortical carcinoma
C
0.700
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs1057519902
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Brain Neoplasms
C
0.700
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs1057519902
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Brain Stem Glioma
C
0.700
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs1057519903
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Brain Stem Glioma
T
0.700
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs1276519904
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Overgrowth
G
0.700
GeneticVariation
CLINVAR
Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.
26139371
2015
rs1276519904
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
UniProt: a hub for protein information.
25348405
2015
rs1276519904
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.
26139371
2015
rs1276519904
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
UniProt: a hub for protein information.
25348405
2015
rs1276519904
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Overgrowth
G
0.700
GeneticVariation
CLINVAR
UniProt: a hub for protein information.
25348405
2015
rs1276519904
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.
26139371
2015
rs1057519903
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
GLIOMA SUSCEPTIBILITY 1
0.700
GeneticVariation
UNIPROT
Histone H3.3. mutations drive pediatric glioblastoma through upregulation of MYCN.
23539269
2013
rs1276519904
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.
23415232
2013
rs1276519904
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.
23415232
2013
rs1276519904
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Overgrowth
G
0.700
GeneticVariation
CLINVAR
Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.
23415232
2013
rs1553260624
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
GLIOMA SUSCEPTIBILITY 1
0.700
GeneticVariation
UNIPROT
Histone H3.3. mutations drive pediatric glioblastoma through upregulation of MYCN.
23539269
2013
rs1057519903
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
GLIOMA SUSCEPTIBILITY 1
0.700
GeneticVariation
UNIPROT
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.
22286216
2012
rs1057519903
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
GLIOMA SUSCEPTIBILITY 1
0.700
GeneticVariation
UNIPROT
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
22286061
2012