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Gene entry

PSTPIP1

proline-serine-threonine phosphatase interacting protein 1

Chromosome
15
Cytoband
15q24.3
Variants (rsID)
18

PSTPIP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q24.3). Its official name is “proline-serine-threonine phosphatase interacting protein 1”. The reference table lists 18 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs11858480Benignsingle nucleotide variantPyogenic arthritis-pyoderma gangrenosum-acne syndrome
  • rs139362350Benignsingle nucleotide variantPyogenic arthritis-pyoderma gangrenosum-acne syndrome|Autoinflammatory syndrome
  • rs200771233Benignsingle nucleotide variantPyogenic arthritis-pyoderma gangrenosum-acne syndrome|Autoinflammatory syndrome
  • rs201872851Benignsingle nucleotide variantPyogenic arthritis-pyoderma gangrenosum-acne syndrome|Behcet disease|Autoinflammatory syndrome
  • rs77026017Benignsingle nucleotide variantPyogenic arthritis-pyoderma gangrenosum-acne syndrome|Autoinflammatory syndrome
  • rs201253322Conflicting interpretationssingle nucleotide variantPyogenic arthritis-pyoderma gangrenosum-acne syndrome|Autoinflammatory syndrome
  • rs121908130Pathogenicsingle nucleotide variantPyogenic arthritis-pyoderma gangrenosum-acne syndrome
  • rs28939089Pathogenicsingle nucleotide variantPyogenic arthritis-pyoderma gangrenosum-acne syndrome
  • rs886041107Uncertain significancesingle nucleotide variantBehcet disease|Pyogenic arthritis-pyoderma gangrenosum-acne syndrome|Autoinflammatory syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.