Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

5592

Name

PRKG1

Synonymous

1|PKG|PRKG1B|PRKGR1B|cGK|cGK 1|cGK1|cGKI|cGKI-BETA|cGKI-alpha;protein kinase, cGMP-dependent, type I;PRKG1;protein kinase, cGMP-dependent, type I

Definition

cGMP-dependent protein kinase 1|protein kinase, cGMP-dependent, regulatory, type I, beta

Position

10q11.2

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

Variant (Location; Chr; Position; SNP; Allele; Homogeneity)

Discovery Cohort (Cochran-Armitage Trend Test P-value; P-value from Eigenstrat; MAF cases; MAF controls)

Replication Cohort (Cochran-Armitage Trend Test P-value; MAF cases; MAF controls)

intron; chr10;53537213;rs11000798;G/A; + -

3.9113e10-4; 6.4351e10-4; 0.3044; 0.23640.6839; 0.2281; 0.2374

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.R422P; chr10:54031201-54031201

lungadenocarcinoma; carcinoma

p.G525V; chr10:54041941-54041941

lungsmall_cell_carcinoma; carcinoma

p.G525*; chr10:54041940-54041940

lungsmall_cell_carcinoma; carcinoma

p.?; chr10:54040698-54040698

lungadenocarcinoma; carcinoma

p.R617K; chr10:54048708-54048708

lungadenocarcinoma; carcinoma

p.Q393H; chr10:54031115-54031115

lungsquamous_cell_carcinoma; carcinoma

p.K162_V163>NF; chr10:53227490-53227491

lungadenocarcinoma; carcinoma

p.H93N; chr10:52834627-52834627

lungsquamous_cell_carcinoma; carcinoma

p.P83H; chr10:52834598-52834598

lungsquamous_cell_carcinoma; carcinoma

p.S570N; chr10:54042076-54042076

lungadenocarcinoma; carcinoma

p.K197E; chr10:53227593-53227593

lungsquamous_cell_carcinoma; carcinoma

p.T225T; chr10:53564427-53564427

lungadenocarcinoma; carcinoma

p.L439M; chr10:54032153-54032153

lungsquamous_cell_carcinoma; carcinoma

p.S288T; chr10:53822318-53822318

lungsmall_cell_carcinoma; carcinoma

p.R441I; chr10:54032160-54032160

lungadenocarcinoma; carcinoma

p.V294F; chr10:53822336-53822336

lungadenocarcinoma; carcinoma

p.R209R; chr10:53564377-53564377

lungsquamous_cell_carcinoma; carcinoma

p.F573F; chr10:54048495-54048495

lungadenocarcinoma; carcinoma

p.K630K; chr10:54048748-54048748

lungsquamous_cell_carcinoma; carcinoma

p.G260V; chr10:53814260-53814260

lungsquamous_cell_carcinoma; carcinoma

p.?; chr10:53893597-53893597

lungsquamous_cell_carcinoma; carcinoma

p.E148D; chr10:52913056-52913056

lungsmall_cell_carcinoma; carcinoma

p.V294V; chr10:53822338-53822338

lungadenocarcinoma; carcinoma

p.T280T; chr10:53814321-53814321

lungcarcinoma

p.P502S; chr10:54040649-54040649

lungadenocarcinoma; carcinoma

p.P675T; chr10:54053622-54053622

lungsmall_cell_carcinoma; carcinoma

p.M175I; chr10:53227529-53227529

lungsquamous_cell_carcinoma; carcinoma


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