rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.810
GeneticVariation
BEFREE
Effects of Peutz-Jeghers syndrome (PJS) causing missense mutations L67P , L182P, G242V and R297S on the structural dynamics of LKB1 (Liver kinase B1) protein.
29447078
2019
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.810
GeneticVariation
UNIPROT
A novel de novo mutation in LKB1 gene in a Chinese Peutz Jeghers syndrome patient significantly diminished p53 activity.
21411391
2011
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.810
GeneticVariation
UNIPROT
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes.
15987703
2005
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
C
0.810
GeneticVariation
CLINVAR
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes.
15987703
2005
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
C
0.810
GeneticVariation
CLINVAR
Genotype-phenotype correlations in Peutz-Jeghers syndrome.
15121768
2004
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.810
GeneticVariation
UNIPROT
Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.
12372054
2002
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.810
GeneticVariation
UNIPROT
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.
10408777
1999
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
C
0.810
GeneticVariation
CLINVAR
Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.
9887330
1999
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.810
GeneticVariation
UNIPROT
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome.
9760200
1998
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
C
0.810
GeneticVariation
CLINVAR
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
9428765
1998
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.810
GeneticVariation
UNIPROT
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
9428765
1998
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.810
GeneticVariation
UNIPROT
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.
9837816
1998
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.810
GeneticVariation
UNIPROT
Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.
9425897
1998
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
C
0.810
GeneticVariation
CLINVAR
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.
9837816
1998
rs137853077
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
C
0.810
CausalMutation
CLINVAR
rs1057520042
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs137853082
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs730881979
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs1057520042
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.800
GeneticVariation
UNIPROT
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
25645574
2015
rs1057520042
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.800
GeneticVariation
UNIPROT
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
25394175
2015
rs1057520042
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs137853082
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs137853082
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.800
GeneticVariation
UNIPROT
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
25394175
2015
rs137853082
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
A
0.800
CausalMutation
CLINVAR
Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome.
26225618
2015
rs137853082
×
Entrez Id:
6794
Gene Symbol:
STK11
STK11
Peutz-Jeghers Syndrome
0.800
GeneticVariation
UNIPROT
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
25645574
2015