Overview

Location [1]
9p24.3
Protein [2]
Probable global transcription activator SNF2L2
Synonyms [1]
BRM, hSNF2a, SNF2L2, BAF190, Sth1p, SWI2, SNF2LA, SNF2, NCBRS, hBRM

SMARCA2 is altered in 3.17% of all cancers with conventional glioblastoma multiforme, glioblastoma, colorectal adenocarcinoma, diffuse intrinsic pontine glioma, and high-grade glioma, NOS having the greatest prevalence of alterations [3].

SMARCA2 GENIE Cases - Top Diseases

The most common alterations in SMARCA2 are SMARCA2 Q229P (0.26%), SMARCA2 Q234P (0.26%), SMARCA2 E501G (0.13%), SMARCA2 Q228_Q229delinsP (0.18%), and SMARCA2 Q238del (0.08%) [3].

SMARCA2 GENIE Cases - Top Alterations

Significance of SMARCA2 in Diseases

Breast Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Malignant Solid Tumor +

Bladder Carcinoma +

Epithelioid Sarcoma +

Malignant Ovarian Clear Cell Tumor +

Malignant Ovarian Endometrioid Tumor +

Rhabdoid Tumor +

Sarcomatoid Carcinoma +

Soft Tissue Sarcoma +

Synovial Sarcoma +

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.