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Gene entry

RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2

Chromosome
1
Cytoband
1q41
Variants (rsID)
33

RAB3GAP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q41). Its official name is “RAB3 GTPase activating non-catalytic protein subunit 2”. The reference table lists 33 variants (rsID) for this gene.

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Clinically classified variants

8 reference-table entries with clinical significance.

  • rs12045447Benignsingle nucleotide variantWarburg micro syndrome 2|Martsolf syndrome|Warburg micro syndrome 2|Martsolf syndrome
  • rs140377995Conflicting interpretationssingle nucleotide variantWarburg micro syndrome 2|Martsolf syndrome|Warburg micro syndrome 2|Martsolf syndrome
  • rs200579008Conflicting interpretationssingle nucleotide variantMartsolf syndrome|Warburg micro syndrome 2|Warburg micro syndrome 2|Martsolf syndrome
  • rs201613456Conflicting interpretationssingle nucleotide variantWarburg micro syndrome 2|Martsolf syndrome|Martsolf syndrome|Warburg micro syndrome 2
  • rs59190330Conflicting interpretationssingle nucleotide variantMartsolf syndrome|Warburg micro syndrome 2|Martsolf syndrome|Warburg micro syndrome 2
  • rs144263040Likely benignsingle nucleotide variantMartsolf syndrome|Warburg micro syndrome 2
  • rs149563712Uncertain significancesingle nucleotide variantMartsolf syndrome|Warburg micro syndrome 2|Microcephaly|Global developmental delay|Amenorrhea
  • rs188522997Uncertain significancesingle nucleotide variantMartsolf syndrome|Warburg micro syndrome 2|Warburg micro syndrome 2|Martsolf syndrome|Amenorrhea

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.