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ACVR1

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Associated Diseases

Overview

Location [1]
2q24.1
Protein [2]
Activin receptor type-1
Synonyms [1]
TSRI, ACVR1A, ALK2, SKR1, ACTRI, FOP, ACVRLK2

ACVR1 is altered in 0.85% of all cancers with endometrial endometrioid adenocarcinoma, colon adenocarcinoma, lung adenocarcinoma, cutaneous melanoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

ACVR1 GENIE Cases - Top Diseases

The most common alterations in ACVR1 are ACVR1 R206H (0.06%), ACVR1 Loss (0.05%), ACVR1 Amplification (0.05%), ACVR1 G328E (0.02%), and ACVR1 S290L (0.02%) [3].

ACVR1 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.