Overview

Location [1]
12p12.1
Protein [2]
ATP-dependent DNA helicase Q1
Synonyms [1]
RECQL1, RecQ1

RECQL is altered in 1.39% of all cancers with lung adenocarcinoma, colon adenocarcinoma, testicular mixed germ cell tumor, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

RECQL GENIE Cases - Top Diseases

The most common alterations in RECQL are RECQL Mutation (0.68%), RECQL Amplification (0.60%), RECQL V41fs (0.15%), RECQL Loss (0.07%), and RECQL L500P (0.01%) [3].

RECQL 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.