Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
2q37.3
Protein [2]
Collagen alpha-3(VI) chain
Synonyms [1]
UCMD1, BTHLM1, DYT27

COL6A3 is altered in 3.80% of all cancers with breast invasive ductal carcinoma, mixed lobular and ductal breast carcinoma, breast invasive lobular carcinoma, and breast neoplasm having the greatest prevalence of alterations [3].

COL6A3 GENIE Cases - Top Diseases

The most common alterations in COL6A3 are COL6A3 Amplification (0.12%), COL6A3 A2787T (0.08%), COL6A3 D1350N (0.08%), COL6A3 E1899G (0.08%), and COL6A3 P2088L (0.08%) [3].

COL6A3 GENIE Cases - Top Alterations

Significance of COL6A3 in Diseases

Ovarian Carcinoma +

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.