WAS — WASP actin nucleation promoting factor

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

275PubMed Papers

#1,329 · top 7% of 19K genes

23Diseases

top 2%

0Drugs

207Pathogenic Variants

top 6%

OMIM Disease GeneHighly ConstrainedHub GeneVariant-RichExperimental GO EvidenceSwiss-Prot Reviewed

Rho protein signal transductionregulation of double-strand break repair via nonhomologous end joiningregulation of T cell antigen processing and presentationimmune responseWiskott-Aldrich syndromethrombocytopenia 1X-linked severe congenital neutropeniaX-linked thrombocytopenia with normal platelets

AI Summary

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WASP actin nucleation promoting factor

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

Disease Associations23

Wiskott-Aldrich syndromeOpen Targets

0.85Strong

thrombocytopenia 1Open Targets

0.81Strong

X-linked severe congenital neutropeniaOpen Targets

0.80Strong

X-linked thrombocytopenia with normal plateletsOpen Targets

0.76Strong

ThrombocytopeniaOpen Targets

0.57Moderate

lymphomaOpen Targets

0.47Moderate

severe congenital neutropeniaOpen Targets

0.46Moderate

genetic disorderOpen Targets

0.41Moderate

melanomaOpen Targets

0.38Weak

cutaneous melanomaOpen Targets

0.37Weak

Endometrial Endometrioid AdenocarcinomaOpen Targets

0.37Weak

gastric intestinal type adenocarcinomaOpen Targets

0.37Weak

skin basal cell carcinomaOpen Targets

0.37Weak

non-small cell lung carcinomaOpen Targets

0.29Weak

chronic lymphocytic leukemiaOpen Targets

0.28Weak

hepatocellular carcinomaOpen Targets

0.28Weak

esophageal squamous cell carcinomaOpen Targets

0.28Weak

breast carcinomaOpen Targets

0.28Weak

urinary bladder carcinomaOpen Targets

0.28Weak

lung adenocarcinomaOpen Targets

0.28Weak

Neutropenia, severe congenital, X-linkedUniProt

Thrombocytopenia 1UniProt

Wiskott-Aldrich syndromeUniProt

Pathogenic Variants207

NM_000377.3(WAS):c.360+1G>APathogenic

Wiskott-Aldrich syndrome|not provided|Wiskott-Aldrich syndrome;X-linked severe congenital neutropenia;Thrombocytopenia 1

★★☆☆2026

NM_000377.3(WAS):c.91G>A (p.Glu31Lys)Pathogenic

X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|not provided|Wiskott-Aldrich syndrome

★★☆☆2026→ Residue 31

NM_000377.3(WAS):c.559+5G>APathogenic

not provided|Wiskott-Aldrich syndrome;Thrombocytopenia 1;X-linked severe congenital neutropenia|Wiskott-Aldrich syndrome|Thrombocytopenia 1

★★☆☆2025

NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)Pathogenic

Wiskott-Aldrich syndrome|not provided|X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|Thrombocytopenia 1

★★☆☆2025→ Residue 485

NM_000377.3(WAS):c.671A>G (p.Asp224Gly)Pathogenic

Wiskott-Aldrich syndrome|X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome

★★☆☆2025→ Residue 224

NM_000377.3(WAS):c.777+1G>APathogenic

★★☆☆2025

NM_000377.3(WAS):c.881T>C (p.Ile294Thr)Pathogenic

★★☆☆2025→ Residue 294

NM_000377.3(WAS):c.1271dup (p.Leu425fs)Pathogenic

Wiskott-Aldrich syndrome|Thrombocytopenia 1|Wiskott-Aldrich syndrome;Thrombocytopenia 1;X-linked severe congenital neutropenia

★★☆☆2025→ Residue 425

NM_000377.3(WAS):c.778-6G>APathogenic

not provided|Thrombocytopenia 1;X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome

★★☆☆2025

NM_000377.3(WAS):c.223G>A (p.Val75Met)Pathogenic

not provided|Thrombocytopenia 1|X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome

★★☆☆2025→ Residue 75

NM_000377.3(WAS):c.256C>T (p.Arg86Cys)Pathogenic

Thrombocytopenia 1;X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome|WAS-related disorder

★★☆☆2025→ Residue 86

NM_000377.3(WAS):c.37C>T (p.Arg13Ter)Pathogenic

Wiskott-Aldrich syndrome|X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome;Thrombocytopenia 1|not provided

★★☆☆2025→ Residue 13

NM_000377.3(WAS):c.134C>T (p.Thr45Met)Pathogenic

★★☆☆2025→ Residue 45

NM_000377.3(WAS):c.777+3_777+6delPathogenic

X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|not provided

★★☆☆2025

NM_000377.3(WAS):c.961C>T (p.Arg321Ter)Pathogenic

not provided|Thrombocytopenia 1;X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome

★★☆☆2025→ Residue 321

NM_000377.3(WAS):c.167C>T (p.Ala56Val)Pathogenic

Thrombocytopenia 1|not provided|Wiskott-Aldrich syndrome|Thrombocytopenia 1;Wiskott-Aldrich syndrome;X-linked severe congenital neutropenia

★★☆☆2025→ Residue 56

NM_000377.3(WAS):c.1001del (p.Gly334fs)Pathogenic

Thrombocytopenia 1;Wiskott-Aldrich syndrome;X-linked severe congenital neutropenia|Wiskott-Aldrich syndrome|Thrombocytopenia 1

★★☆☆2025→ Residue 334

NM_000377.3(WAS):c.257G>A (p.Arg86His)Pathogenic

Wiskott-Aldrich syndrome|not provided|Thrombocytopenia 1;Wiskott-Aldrich syndrome;X-linked severe congenital neutropenia

★★☆☆2024→ Residue 86

NM_000377.3(WAS):c.723del (p.Ser242fs)Pathogenic

Thrombocytopenia 1;X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome|not provided|Wiskott-Aldrich syndrome

★★☆☆2024→ Residue 242

NM_000377.3(WAS):c.631C>T (p.Arg211Ter)Pathogenic

X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|not provided

★★☆☆2024→ Residue 211

Tissue Expression6 tissues

Bone Marrow

100%

Lung

58%

Liver

14%

Heart

Brain

Ovary

Gene Interaction Network6 neighbors

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Structure6 PDB hits

Preparing viewer…

PDB2OT0 · 2.05 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.12Highly Constrained

pLIⓘ

1.00Intolerant

Observed/Expected LoF0.03 [0.01–0.12]

Rankings3 dim

Where WAS stands among ~20K protein-coding genes

#1,331of 20,598
Most Researched275 · top 10%
#320of 5,509
Most Pathogenic Variants207 · top 10%
#116of 17,882
Most Constrained (LOEUF)0.12 · top 1%