SPOP, speckle type BTB/POZ protein, 8405

N. diseases: 72; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519964
rs1057519964
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519965
rs1057519965
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519966
rs1057519966
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519966
rs1057519966
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519967
rs1057519967
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519967
rs1057519967
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519968
rs1057519968
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519968
rs1057519968
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519968
rs1057519968
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519968
rs1057519968
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519969
rs1057519969
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519969
rs1057519969
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519970
rs1057519970
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519970
rs1057519970
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519971
rs1057519971
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519971
rs1057519971
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519972
rs1057519972
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs193920894
rs193920894
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs193921065
rs193921065
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0007112
Disease:
Adenocarcinoma of prostate
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs193920894
rs193920894
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0376358
Disease:
Malignant neoplasm of prostate
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519966
rs1057519966
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE Applying these SRM assays to analyze HEK293T cells with and without expression of the three most frequent SPOP mutations in prostate cancer (Y87N, F102C or F133V) led to confident detection of all three SPOP mutations in corresponding positive cell lines but not in the negative cell lines. 28810879 2017
dbSNP: rs1057519966
rs1057519966
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE Applying these SRM assays to analyze HEK293T cells with and without expression of the three most frequent SPOP mutations in prostate cancer (Y87N, F102C or F133V) led to confident detection of all three SPOP mutations in corresponding positive cell lines but not in the negative cell lines. 28810879 2017
dbSNP: rs1057519972
rs1057519972
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE Applying these SRM assays to analyze HEK293T cells with and without expression of the three most frequent SPOP mutations in prostate cancer (Y87N, F102C or F133V) led to confident detection of all three SPOP mutations in corresponding positive cell lines but not in the negative cell lines. 28810879 2017
dbSNP: rs1057519972
rs1057519972
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE Applying these SRM assays to analyze HEK293T cells with and without expression of the three most frequent SPOP mutations in prostate cancer (Y87N, F102C or F133V) led to confident detection of all three SPOP mutations in corresponding positive cell lines but not in the negative cell lines. 28810879 2017
dbSNP: rs1057519971
rs1057519971
Entrez Id: 8405;107984999
Gene Symbol: SPOP;LOC107984999
SPOP;LOC107984999
CUI: C0033578
Disease:
Prostatic Neoplasms
0.010 GeneticVariation BEFREE We sequenced the SPOP gene to identify somatic mutations in 49 AA prostate tumors and identified three missense mutations (p.Y87C, p.F102S, and p.G111E) in five AA prostate tumors (10%) and one synonymous variant (p.I106I) in one tumor. 24994784 2015