Skip to content
Use your HSA or FSA funds
Sequence your genome (opens in a new tab)

Gene

RASA1

RAS p21 protein activator 1

Summary

Cytogenetic location
5q14.3
Coordinates
Chromosome 5: 87,267,883–87,391,916 (GRCh38)
Exons
25 exons across 124 kb
Protein
1,047 amino acids
Also known as
GAP, CM-AVM, p120GAP, p120RASGAP, p120
Previous symbols
RASA
MANE Select transcript
ENST00000274376.11NM_002890.3
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Hereditary Vascular Malformations

    • Capillary Malformation-Arteriovenous Malformation SyndromeAutosomal dominant

      A condition caused by changes in RASA1 or EPHB4 that causes multiple small pink-red skin marks and, in some people, fast-flow arteriovenous malformations in the brain, spine or limbs.

      • 4 GenCC submitters rate it definitive or strong
      Actionability

      Knowing about it supports brain and spine imaging and screening of relatives.

How RASA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where RASA1 sits. RASA1 and 1 gene near it on chromosome 5, from 86,829,900 to 87,829,899.Chromosome 55q14.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.387 Mb87.2 Mb87.4 Mb87.6 Mb87.8 MbRASA1: 87,267,883–87,391,916, forward strandRASA1CCNH: 87,311,473–87,413,029, reverse strandCCNHDiagram of RASA1: 25 exons on the forward strand of chromosome 5Exon 1: 21 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 11: 14 known disease-causing sitesExon 12: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 14: 8 known disease-causing sitesExon 15: 4 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 17: 11 known disease-causing sitesExon 18: 13 known disease-causing sitesExon 19: 9 known disease-causing sitesExon 20: 8 known disease-causing sitesExon 21: 4 known disease-causing sitesExon 22: 4 known disease-causing sitesExon 23: 6 known disease-causing sitesExon 24: 7 known disease-causing sitesExon 25: 3 known disease-causing sitesExon 1: 87,267,883–87,268,990, 1,108 basesExon 2: 87,331,348–87,331,500, 153 basesExon 3: 87,332,507–87,332,642, 136 basesExon 4: 87,333,267–87,333,337, 71 basesExon 5: 87,337,974–87,338,091, 118 basesExon 6: 87,341,290–87,341,321, 32 basesExon 7: 87,346,672–87,346,724, 53 basesExon 8: 87,349,214–87,349,364, 151 basesExon 9: 87,353,157–87,353,235, 79 basesExon 10: 87,362,551–87,362,671, 121 basesExon 11: 87,363,348–87,363,504, 157 basesExon 12: 87,369,813–87,369,900, 88 basesExon 13: 87,372,118–87,372,195, 78 basesExon 14: 87,374,163–87,374,320, 158 basesExon 15: 87,374,840–87,374,916, 77 basesExon 16: 87,376,393–87,376,565, 173 basesExon 17: 87,376,881–87,377,040, 160 basesExon 18: 87,378,396–87,378,538, 143 basesExon 19: 87,379,735–87,379,850, 116 basesExon 20: 87,380,509–87,380,595, 87 basesExon 21: 87,383,713–87,383,780, 68 basesExon 22: 87,385,301–87,385,389, 89 basesExon 23: 87,386,826–87,386,903, 78 basesExon 24: 87,389,393–87,389,527, 135 basesExon 25: 87,390,800–87,391,916, 1,117 bases15101520255′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.7 kb of the gene's 124 kb; 3,144 of those bases code for the protein.

Sequencing RASA1

213

positions in RASA1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 124 kb of RASA1, introns included, not only the 4.7 kb of exons.

Genes linked to the same conditions

Traits linked to RASA1

The Human Phenotype Ontology lists these as features of the rare conditions RASA1 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). RASA1 gene: RAS p21 protein activator 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/rasa1

Vancouver

Dante Labs. RASA1 gene: RAS p21 protein activator 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rasa1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test