SMARCA4 c.3291C>A ;(p.H1097Q)

Variant ID: 19-11138535-C-A

NM_003072.3(SMARCA4):c.3291C>A;(p.H1097Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: SMARCA4: His1097Gln
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.

Acta Neuropathologica
Holdhof, Dörthe D; Johann, Pascal D PD; Spohn, Michael M; Bockmayr, Michael M; Safaei, Sepehr S; Joshi, Piyush P; Masliah-Planchon, Julien J; Ho, Ben B; Andrianteranagna, Mamy M; Bourdeaut, Franck F; Huang, Annie A; Kool, Marcel M; Upadhyaya, Santhosh A SA; Bendel, Anne E AE; Indenbirken, Daniela D; Foulkes, William D WD; Bush, Jonathan W JW; Creytens, David D; Kordes, Uwe U; Frühwald, Michael C MC; Hasselblatt, Martin M; Schüller, Ulrich U
Publication Date: 2021-02

Variant appearance in text: SMARCA4: H1097Q
PubMed Link: 33331994
Variant Present in the following documents:
  • 401_2020_2250_MOESM1_ESM.pdf
View BVdb publication page