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Gene

PAK1

PAK1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (1), Actionable biomarkers (1), Target-disease associations (159), and 5 more evidence types, each linked to its source.

Ensembl ENSG00000149269 UniProt Q13153 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 1 Actionable biomarkers Actionable biomarkers 1 Target-disease associations Target-disease associations 159 Vendor sourcing Vendor sourcing 12 Trial-cited literature Trial-cited literature 71 Protein variant mentions Protein variant mentions 5 Literature-extracted relations Literature-extracted relations 16 Organizations publishing Organizations publishing 126 Assay-provider ledger Assay-provider ledger 1 Actionable biomarkers Actionable biomarkers 1 Target-disease associations Target-disease associations 159 Vendor sourcing Vendor sourcing 12 Trial-cited literature Trial-cited literature 71 Protein variant mentions Protein variant mentions 5 Literature-extracted relations Literature-extracted relations 16 Organizations publishing Organizations publishing 126

Rows recorded per section (log scale)

4 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the papers our biomarker dictionary matched in a year mention PAK1. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 2 at the structurally incomplete recent edge.

The yearly numbers
PAK1 per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2023. The share is of the papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Publication mentions Share of that year
2023 2 of 11,460 0.02%
2022 7 of 13,598 0.05%
2021 7 of 15,045 0.05%
2020 8 of 14,459 0.06%
2019 4 of 12,159 0.03%
2018 9 of 11,854 0.08%
2017 7 of 11,595 0.06%
2016 7 of 10,983 0.06%
2015 3 of 11,395 0.03%
2014 3 of 10,367 0.03%

Assay-provider ledger (1)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Gencurix Inc. Diagnostic provider Clinical validationAnalytical validation 1 December 01, 2026 (scheduled journal issue - may already be available ahead of print)

Actionable biomarkers (1)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
PAK1 amplification Pak Inhibitors response-associated cutaneous melanoma Cancer Genome Interpreter

Target-disease associations (159)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
Alzheimer disease nervous system disease Literature (Europe PMC)
Autoimmune Hepatitis endocrine system disease Literature (Europe PMC)
COVID-19 infectious disease Literature (Europe PMC)
Combined hyperlipidemia endocrine system disease Mouse knockout (IMPC)
Cutaneous T-cell lymphoma cancer or benign tumor Literature (Europe PMC)

Vendor sourcing (12)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense changes are a common disease-causing mechanism. Damaging e... View ClinVar record SCV005905671.1
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The c.1225G>A (p.G409R) alteration is located in exon 13 (coding exon 12) of the PAK1 gene. This alteration results from a G to A substitution at nucleotide ... View ClinVar record SCV001444600.4
Centre Hospitalier Universitaire de Nantes Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission No supporting text recorded; see the citation. View ClinVar record SCV004101239.1
DASA (Brazil) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission NM_002576.5(PAK1):c.190+5A>G is a splice-region variant predicted to affect normal RNA splicing. This variant is rare in population databases. The currently ... View ClinVar record SCV007659794.2
GeneDx Holdings Corp. Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein str... View ClinVar record SCV001788402.2

Trial-cited literature (71)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Clinical and functional spectrum of RAC2-related immunodeficiency. Blood 2024 23
RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation. The Journal of experimental medicine 2024 9
Multilevel proteomic analyses reveal molecular diversity between diffuse-type and intestinal-type gastric cancer. Nature communications 2023 47
Probing the diabetes and colorectal cancer relationship using gene - environment interaction analyses. British journal of cancer 2023 11
Mechanisms of podocyte injury and implications for diabetic nephropathy. Clinical science (London, England : 1979) 2022 185

Protein variant mentions (5)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.I476T 1 2015 PMID 25741868
p.R272W 1 2015 PMID 25741868
p.R495G 1 2015 PMID 25741868
p.Y131C 1 2015 PMID 25741868
p.Y429C 1 2015 PMID 25741868

Literature-extracted relations (16)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Propolis Chemical negative_correlate Propolis and its potential against SARS-CoV-2 infection mechanisms and COVID-19 disease: Running title: Propolis against SARS-CoV-2 infection and COVID-19. 2020
Hydroxychloroquine Chemical negative_correlate PAK1-blockers: Potential Therapeutics against COVID-19. 2020
Ketorolac Chemical negative_correlate PAK1-blockers: Potential Therapeutics against COVID-19. 2020
MELATONIN Chemical negative_correlate PAK1-blockers: Potential Therapeutics against COVID-19. 2020
Propolis Chemical negative_correlate PAK1-blockers: Potential Therapeutics against COVID-19. 2020

Organizations publishing (126)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Government of the United States of America Government 5 2018 to 2024
Harris Health System Hospital 4 2011 to 2018
University of Oxford Academic 4 2011 to 2018
Mass General Brigham Hospital 3 2016 to 2024
University of Zurich Academic 3 2014 to 2020

Where PAK1 appears

  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • immune system disease
  • infectious disease
  • integumentary system disease
  • measurement
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype
  • reproductive system or breast disease
  • respiratory or thoracic disease

150 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions, fda biomarker qualification projects, trial mentions, and human sample screening reference.

Browse all biomarker evidence pages