PF4V1 — platelet factor 4 variant 1

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

30PubMed Papers

#11,874 · top 61% of 19K genes

20Diseases

top 64%

0Drugs

0Pathogenic Variants

Experimental GO EvidenceSwiss-Prot Reviewed

protein bindingcellular response to lipopolysaccharideGO:0005615chemokine activityposterior cortical atrophyessential thrombocythemialaryngotracheoesophageal cleftplatelet-type von Willebrand disease

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

platelet factor 4 variant 1

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations20

posterior cortical atrophyOpen Targets

0.09Suggestive

essential thrombocythemiaOpen Targets

0.08Suggestive

laryngotracheoesophageal cleftOpen Targets

0.07Suggestive

platelet-type von Willebrand diseaseOpen Targets

0.07Suggestive

autosomal dominant macrothrombocytopeniaOpen Targets

0.07Suggestive

thrombocythemia 1Open Targets

0.06Suggestive

platelet-type bleeding disorder 10Open Targets

0.06Suggestive

thrombocytopenia 7Open Targets

0.06Suggestive

Beta-thalassemia - X-linked thrombocytopeniaOpen Targets

0.06Suggestive

beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets

0.06Suggestive

thrombocythemia 2Open Targets

0.06Suggestive

ThrombocytopeniaOpen Targets

0.06Suggestive

platelet-type bleeding disorder 15Open Targets

0.06Suggestive

bleeding disorder, platelet-type, 24Open Targets

0.05Suggestive

familial isolated congenital aspleniaOpen Targets

0.05Suggestive

thrombocytopenia 9Open Targets

0.05Suggestive

thrombocythemia 3Open Targets

0.05Suggestive

thrombocytopenia 4Open Targets

0.05Suggestive

autosomal dominant nonsyndromic hearing loss 1Open Targets

0.05Suggestive

primary familial polycythemia due to EPO receptor mutationOpen Targets

0.05Suggestive

Pathogenic Variants

No pathogenic variants reported on ClinVar for this gene.

Tissue Expression6 tissues

Bone Marrow

100%

Liver

86%

Lung

71%

Brain

Heart

Ovary

Gene Interaction Network6 neighbors

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Structure1 PDB hit

Preparing viewer…

PDB4HSV · 2.08 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

1.34LoF Tolerant

pLIⓘ

0.04Tolerant

Observed/Expected LoF0.64 [0.33–1.34]

Rankings2 dim

Where PF4V1 stands among ~20K protein-coding genes

#12,000of 20,598
Most Researched30
#14,049of 17,882
Most Constrained (LOEUF)1.34