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

Basic Information

Gene ID

5163

Name

PDK1

Synonymous

-;pyruvate dehydrogenase kinase, isozyme 1;PDK1;pyruvate dehydrogenase kinase, isozyme 1

Definition

PDH kinase 1|mitochondrial pyruvate dehydrogenase, lipoamide, kinase isoenzyme 1|pyruvate dehydrogenase kinase, isoenzyme 1

Position

2q31.1

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for PDK1

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.C421Y; chr2:173460648-173460648

lungadenocarcinoma; carcinoma

p.P324S; chr2:173451030-173451030

lungsquamous_cell_carcinoma; carcinoma

p.L352L; chr2:173451116-173451116

lungadenocarcinoma; carcinoma

p.E379Q; chr2:173457741-173457741

lungadenocarcinoma; carcinoma

p.?; chr2:173457662-173457662

lungsquamous_cell_carcinoma; carcinoma

p.E290A; chr2:173435476-173435476

lungadenocarcinoma; carcinoma

p.I135V; chr2:173427012-173427012

lungsquamous_cell_carcinoma; carcinoma

p.V303I; chr2:173435514-173435514

lungadenocarcinoma; carcinoma

p.K315M; chr2:173435551-173435551

lungadenocarcinoma; carcinoma

p.E227*; chr2:173429789-173429789

lungadenocarcinoma; carcinoma


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