Overview

Location [1]
10q11.21
Protein [2]
Ras-GEF domain-containing family member 1A
Synonyms [1]
CG4853

RasGEF domain family, member 1A (RASGEF1A) is a gene that encodes a protein that functions as a guanine nucleotide exchange factor (GEF). The protein is important for cell migration. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

RASGEF1A is altered in 0.77% of all cancers with colon adenocarcinoma, lung adenocarcinoma, melanoma, oligodendroglioma, and squamous cell lung carcinoma having the greatest prevalence of alterations [3].

RASGEF1A GENIE Cases - Top Diseases

The most common alterations in RASGEF1A are RASGEF1A E135G (0.08%), RASGEF1A G30R (0.08%), RASGEF1A G91W (0.08%), RASGEF1A I93F (0.08%), and RASGEF1A P195H (0.08%) [3].

RASGEF1A GENIE Cases - Top Alterations

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.