rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
G
0.820
GeneticVariation
CLINVAR
One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R ), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.
25383785
2015
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
BEFREE
One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R ), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.
25383785
2015
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
G
0.820
GeneticVariation
CLINVAR
We conclude that D19A, D22G, K23R and K23_I24insIDK form a mechanistically distinct subset of hereditary pancreatitis -associated mutations that exert their effect primarily through direct stimulation of autoactivation, independently of CTRC.
23601753
2013
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
G
0.820
GeneticVariation
CLINVAR
Expression of mutated cationic trypsinogen reduces cellular viability in AR4-2J cells.
16036133
2005
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
15776435
2005
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).
14695529
2004
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.
11866271
2002
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.
11788572
2002
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
BEFREE
Several missense mutations, including R122H, N29I, K23R , A16V and D22G, in the cationic trypsinogen gene (PRSS1), have been associated with certain forms of hereditary pancreatitis (HP).
11260229
2001
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
G
0.820
GeneticVariation
CLINVAR
Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.
10930381
2000
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.
11073545
2000
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.
10930381
2000
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.
10381903
1999
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.
10204851
1999
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
Mutations of the cationic trypsinogen in hereditary pancreatitis.
9633818
1998
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
9322498
1997
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
0.820
GeneticVariation
UNIPROT
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
8841182
1996
rs111033567
×
Entrez Id:
5644
Gene Symbol:
PRSS1
PRSS1
Hereditary pancreatitis
G
0.820
CausalMutation
CLINVAR